Variant ID: 14-105246551-C-T

NM_005163.2(AKT1):c.49G>A;(p.Glu17Lys)

This variant was identified in 806 publications




Publications:


Breast Cancer Treatments: Updates and New Challenges.

Journal Of Personalized Medicine
A Burguin, C Diorio, F Durocher
Publication Date: 2021-08-19

Variant appearance in text: AKT1: E17K
PubMed Link: 34442452
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implementation of Next Generation Sequencing-Based Liquid Biopsy for Clinical Molecular Diagnostics in Non-Small Cell Lung Cancer (NSCLC) Patients.

Diagnostics (Basel, Switzerland)
E Zulato, V Tosello, G Nardo, L Bonanno, P Del Bianco, S Indraccolo
Publication Date: 2021-08-13

Variant appearance in text: AKT1: E17K
PubMed Link: 34441402
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Utility of Liquid Biopsy-Based Actionable Mutations Detected via ddPCR.

Biomedicines
I Palacín-Aliana, N García-Romero, A Asensi-Puig, J Carrión-Navarro, V González-Rumayor, Á Ayuso-Sacido
Publication Date: 2021-07-28

Variant appearance in text: AKT1: E17K
PubMed Link: 34440110
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeting Akt in cancer for precision therapy.

Journal Of Hematology & Oncology
H Hua, H Zhang, J Chen, J Wang, J Liu, Y Jiang
Publication Date: 2021-08-21

Variant appearance in text: AKT1: E17K
PubMed Link: 34419139
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive Analysis of Metabolic Genes in Breast Cancer Based on Multi-Omics Data.

Pathology Oncology Research : Por
Y Hua, L Gao, X Li
Publication Date: 2021

Variant appearance in text: AKT1: E17K
PubMed Link: 34408553
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Phase 1 study of M2698, a p70S6K/AKT dual inhibitor, in patients with advanced cancer.

Journal Of Hematology & Oncology
AM Tsimberidou, JV Shaw, D Juric, C Verschraegen, AM Weise, J Sarantopoulos, G Lopes, J Nemunaitis, M Mita, H Park, B Ellers-Lenz, H Tian, W Xiong, R Kaleta, R Kurzrock
Publication Date: 2021-08-18

Variant appearance in text: AKT1: E17K
PubMed Link: 34407844
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phylogenetic analysis of combined lobular and ductal carcinoma of the breast.

Molecular Medicine Reports
H Kobayashi, T Nakai, Y Nakanishi, M Esumi, S Masuda
Publication Date: 2021-10

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 34396426
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



AKT3-mediated IWS1 phosphorylation promotes the proliferation of EGFR-mutant lung adenocarcinomas through cell cycle-regulated U2AF2 RNA splicing.

Nature Communications
GI Laliotis, E Chavdoula, MD Paraskevopoulou, A Kaba, A La Ferlita, S Singh, V Anastas, KA Nair, A Orlacchio, V Taraslia, I Vlachos, M Capece, A Hatzigeorgiou, D Palmieri, C Tsatsanis, S Alaimo, L Sehgal, DP Carbone, V Coppola, PN Tsichlis
Publication Date: 2021-07-30

Variant appearance in text: AKT: E17K
PubMed Link: 34330897
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional and mutational analysis after radiation and cetuximab treatment on prostate carcinoma cell line DU145.

Radiation Oncology (London, England)
R Schneider, G Gademann, HJ Ochel, K Neumann, B Jandrig, P Hass, M Walke, M Schostak, T Brunner, F Christoph
Publication Date: 2021-07-28

Variant appearance in text: AKT1: E17K
PubMed Link: 34321039
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Durable Response to PD1 Inhibitor Pembrolizumab in a Metastatic, Metaplastic Breast Cancer.

Case Reports In Oncology
E Gorshein, K Matsuda, G Riedlinger, L Sokol, L Rodriguez-Rodriguez, F Eladoumikdachi, M Grandhi, S Ganesan, DL Toppmeyer, L Potdevin, K Toomey, KM Hirshfield, N Chan
Publication Date: 2021

Variant appearance in text: AKT1: E17K
PubMed Link: 34248561
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology
JD Finkle, H Boulos, TM Driessen, C Lo, RA Blidner, A Hafez, AA Khan, A Lozac'hmeur, KE McKinnon, J Perera, W Zhu, A Dowlati, KP White, R Tell, N Beaubier
Publication Date: 2021-07-02

Variant appearance in text: AKT1: E17K
PubMed Link: 34215841
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Graves disease and metastatic hormonal-active Hürthle cell thyroid cancer: A case report.

Medicine
N Besic, B Vidergar-Kralj, K Zaletel, C Grasic-Kuhar
Publication Date: 2021-06-25

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 34160415
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Excellent Response to Atezolizumab After Clinically Defined Hyperprogression Upon Previous Treatment With Pembrolizumab in Metastatic Triple-Negative Breast Cancer: A Case Report and Review of the Literature.

Frontiers In Immunology
D Feng, Y Guan, M Liu, S He, W Zhao, B Yin, J Liang, Y Li, J Wang
Publication Date: 2021

Variant appearance in text: AKT1: E17K
PubMed Link: 34135884
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Targeted PI3K/AKT-hyperactivation induces cell death in chronic lymphocytic leukemia.

Nature Communications
V Ecker, M Stumpf, L Brandmeier, T Neumayer, L Pfeuffer, T Engleitner, I Ringshausen, N Nelson, M Jücker, S Wanninger, T Zenz, C Wendtner, K Manske, K Steiger, R Rad, M Müschen, J Ruland, M Buchner
Publication Date: 2021-06-10

Variant appearance in text: AKT: E17K
PubMed Link: 34112805
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



PRMT5-mediated arginine methylation activates AKT kinase to govern tumorigenesis.

Nature Communications
S Yin, L Liu, C Brobbey, V Palanisamy, LE Ball, SK Olsen, MC Ostrowski, W Gan
Publication Date: 2021-06-08

Variant appearance in text: AKT: E17K
PubMed Link: 34103528
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational Landscape of PI3K-AKT-mTOR Pathway in Breast Cancer: Implications for Targeted Therapeutics.

Journal Of Cancer
W Xiao, G Zhang, B Chen, X Chen, L Wen, J Lai, X Li, M Li, H Liu, J Liu, H Han-Zhang, A Lizaso, N Liao
Publication Date: 2021

Variant appearance in text: AKT1: E17K
PubMed Link: 34093841
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying Novel Actionable Targets in Colon Cancer.

Biomedicines
MG Cerrito, E Grassilli
Publication Date: 2021-05-20

Variant appearance in text: AKT: E17K
PubMed Link: 34065438
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications
B Pereira, CT Chen, L Goyal, C Walmsley, CJ Pinto, I Baiev, R Allen, L Henderson, S Saha, S Reyes, MS Taylor, DM Fitzgerald, MW Broudo, A Sahu, X Gao, W Winckler, AR Brannon, JA Engelman, R Leary, JR Stone, CD Campbell, D Juric
Publication Date: 2021-05-27

Variant appearance in text: AKT1: E17K
PubMed Link: 34045463
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Immature teratoma in an adolescent with Proteus syndrome: A novel association.

Clinical Case Reports
JS Underwood, C Ours, RC Burns, MJ Ferguson
Publication Date: 2021-05

Variant appearance in text: AKT1: 49G>A
PubMed Link: 34026175
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation sequencing revealed recurrent ZFPM1 mutations in encapsulated papillary carcinoma of the breast.

Npj Precision Oncology
X Liu, X Huang, Y Bai, Z Zhang, T Jin, H Wu, Z Liang
Publication Date: 2021-05-18

Variant appearance in text: AKT1: E17K
PubMed Link: 34007008
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Kinase drug discovery 20 years after imatinib: progress and future directions.

Nature Reviews. Drug Discovery
P Cohen, D Cross, PA Jänne
Publication Date: 2021-05-17

Variant appearance in text: AKT: E17K
PubMed Link: 34002056
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



AKT Inhibitors: New Weapons in the Fight Against Breast Cancer?

Frontiers In Pharmacology
F Martorana, G Motta, G Pavone, L Motta, S Stella, SR Vitale, L Manzella, P Vigneri
Publication Date: 2021

Variant appearance in text: AKT: E17K
PubMed Link: 33995085
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Primary ciliated muconodular papillary tumor: A rare pulmonary disease and literature review of 65 cases.

Thoracic Cancer
Y Wang, D Wang, J Wang, S Zhao, D Ren, G Chen, Q Wang, D Xu, S Xu
Publication Date: 2021-05-07

Variant appearance in text: AKT: E17K
PubMed Link: 33960670
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic interrogation of mutation groupings reveals divergent downstream expression programs within key cancer genes.

Bmc Bioinformatics
MR Grzadkowski, HD Holly, J Somers, E Demir
Publication Date: 2021-05-06

Variant appearance in text: AKT1: E17K
PubMed Link: 33957863
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Analysis and Targeted Therapy Using Buparlisib and MK2206 in a Patient with Triple Metachronous Cancers of the Kidney, Prostate, and Squamous Cell Carcinoma of the Lung: A Case Report.

Oncotargets And Therapy
T Zhao, Y Tian, X Ding, L Liu, B Tan, B Yang, J Wu, T Lei, R Wang, Y Ding
Publication Date: 2021

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33953569
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The CINSARC signature predicts the clinical outcome in patients with Luminal B breast cancer.

Npj Breast Cancer
A Goncalves, P Finetti, D Birnbaum, F Bertucci
Publication Date: 2021-05-05

Variant appearance in text: AKT1: E17K
PubMed Link: 33953185
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implementation of Precision Oncology for Patients with Metastatic Breast Cancer in an Interdisciplinary MTB Setting.

Diagnostics (Basel, Switzerland)
E Sultova, CB Westphalen, A Jung, J Kumbrink, T Kirchner, D Mayr, M Rudelius, S Ormanns, V Heinemann, KH Metzeler, PA Greif, A Hester, S Mahner, N Harbeck, R Wuerstlein
Publication Date: 2021-04-20

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33924134
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

In Vivo (Athens, Greece)
RE Friedrich
Publication Date: 2021

Variant appearance in text: AKT1: 49G>A; Glu17Lys
PubMed Link: 33910840
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Metastasis-Associated MicroRNAs in Metastatic Melanoma by miRNA Expression Profile and Experimental Validation.

Frontiers In Genetics
Y Gao, J Xu, H Li, Y Hu, G Yu
Publication Date: 2021

Variant appearance in text: AKT1: E17K
PubMed Link: 33897771
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.

Frontiers In Neuroanatomy
LH Nguyen, A Bordey
Publication Date: 2021

Variant appearance in text: AKT: E17K
PubMed Link: 33897381
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Redox regulation of the insulin signalling pathway.

Redox Biology
C Lennicke, HM Cochemé
Publication Date: 2021-04-02

Variant appearance in text: AKT: Glu17Lys
PubMed Link: 33893069
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



SalvGlandDx - a comprehensive salivary gland neoplasm specific next generation sequencing panel to facilitate diagnosis and identify therapeutic targets.

Neoplasia (New York, N.Y.)
SN Freiberger, M Brada, C Fritz, S Höller, A Vogetseder, M Horcic, M Bihl, M Michal, M Lanzer, M Wartenberg, U Borner, PK Bode, MA Broglie, T Rordorf, GB Morand, NJ Rupp
Publication Date: 2021-04-17

Variant appearance in text: AKT1: E17K
PubMed Link: 33878706
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



MEK inhibitors - novel targeted therapies of neurofibromatosis associated benign and malignant lesions.

Biomarker Research
A Harder
Publication Date: 2021-04-16

Variant appearance in text: AKT1: E17K
PubMed Link: 33863389
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of AKT Somatic Mutations in Chinese Breast Cancer Patients.

Cancer Management And Research
L Wen, G Zhang, C Ren, X Li, H Mok, M Jia, Y Wang, B Chen, K Li, L Cao, C Li, W Xiao, J Lai, J Lin, G Wei, Y Li, Y Zhang, X Chen, N Liao
Publication Date: 2021

Variant appearance in text: AKT: E17K
PubMed Link: 33854375
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Scientific Reports
K Hagio, T Amano, H Hayashi, T Takeshita, T Oshino, J Kikuchi, Y Ohhara, I Yabe, I Kinoshita, H Nishihara, H Yamashita
Publication Date: 2021-04-14

Variant appearance in text: AKT1: E17K
PubMed Link: 33854152
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
SL Romero-Cordoba, I Salido-Guadarrama, R Rebollar-Vega, V Bautista-Piña, C Dominguez-Reyes, A Tenorio-Torres, F Villegas-Carlos, JC Fernández-López, L Uribe-Figueroa, L Alfaro-Ruiz, A Hidalgo-Miranda
Publication Date: 2021-04-14

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33854067
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The feasibility of circulating tumor DNA analysis as a marker of recurrence in triple-negative breast cancer.

Oncology Letters
S Okazaki, T Sasaki, S Yasuda, M Abe, N Yoshida, R Yoshida, K Ishibashi, Y Minami, S Okumura, S Chiba, H Takei, R Hayashi, T Nagato, H Kobayashi, A Sugitani, Y Ono, Y Mizukami, M Kitada, Y Ohsaki
Publication Date: 2021-05

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33841581
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach.

Bmc Bioinformatics
JN Dudley, CS Hong, MA Hawari, J Shwetar, JC Sapp, J Lack, H Shiferaw, , JJ Johnston, LG Biesecker
Publication Date: 2021-04-08

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33832433
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meningioma: A Review of Epidemiology, Pathology, Diagnosis, Treatment, and Future Directions.

Biomedicines
C Ogasawara, BD Philbrick, DC Adamson
Publication Date: 2021-03-21

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33801089
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.

Oncotarget
A Joshi, R Mishra, S Desai, P Chandrani, H Kore, R Sunder, S Hait, P Iyer, V Trivedi, A Choughule, V Noronha, A Joshi, V Patil, N Menon, R Kumar, K Prabhash, A Dutt
Publication Date: 2021-03-16

Variant appearance in text: AKT1: E17K
PubMed Link: 33796225
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of pathological diagnosis and genetic abnormalities in meningiomas with the embryological origins of the meninges.

Scientific Reports
A Okano, S Miyawaki, H Hongo, S Dofuku, Y Teranishi, J Mitsui, M Tanaka, M Shin, H Nakatomi, N Saito
Publication Date: 2021-03-26

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33772057
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.

Genome Medicine
TJ Nicholas, MJ Cormier, X Huang, Y Qiao, GT Marth, AR Quinlan
Publication Date: 2021-03-26

Variant appearance in text: AKT1: E17K
PubMed Link: 33771218
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating tumor DNA as a dynamic biomarker of response to palbociclib and fulvestrant in metastatic breast cancer patients.

Breast Cancer Research : Bcr
L Darrigues, JY Pierga, A Bernard-Tessier, I Bièche, AB Silveira, M Michel, D Loirat, P Cottu, L Cabel, C Dubot, R Geiss, F Ricci, A Vincent-Salomon, C Proudhon, FC Bidard
Publication Date: 2021-03-06

Variant appearance in text: AKT1: E17K
PubMed Link: 33676547
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Biomarkers for Contemporary Therapies in Hormone Receptor-Positive Breast Cancer.

Genes
A Freelander, LJ Brown, A Parker, D Segara, N Portman, B Lau, E Lim
Publication Date: 2021-02-17

Variant appearance in text: AKT: E17K
PubMed Link: 33671468
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic Advances in Oncology.

International Journal Of Molecular Sciences
J Liu, P Pandya, S Afshar
Publication Date: 2021-02-18

Variant appearance in text: AKT: E17K
PubMed Link: 33670524
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Correlation of Mutations and Expressions of Genes within the PI3K/Akt/mTOR Pathway in Breast Cancer-A Preliminary Study.

International Journal Of Molecular Sciences
P Kołodziej, M Nicoś, PA Krawczyk, J Bogucki, A Karczmarczyk, D Zalewski, T Kubrak, E Kołodziej, A Makuch-Kocka, B Madej-Czerwonka, BJ Płachno, J Kocki, A Bogucka-Kocka
Publication Date: 2021-02-19

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33669698
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a PLCE1‑regulated competing endogenous RNA regulatory network for esophageal squamous cell carcinoma.

Oncology Reports
Z Yang, Y Hui, H Peng, H Zhang, M Li, L Song, F Li, X Cui
Publication Date: 2021-01-04

Variant appearance in text: AKT1: E17K
PubMed Link: 33650665
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Bmc Cancer
CC Huang, YF Tsai, CY Liu, TC Chao, PJ Lien, YS Lin, CJ Feng, JH Chiu, CY Hsu, LM Tseng
Publication Date: 2021-02-25

Variant appearance in text: AKT1: E17K
PubMed Link: 33632156
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical significance of checkpoint regulator "Programmed death ligand-1 (PD-L1)" expression in meningioma: review of the current status.

Journal Of Neuro-Oncology
S Karimi, S Mansouri, F Nassiri, S Bunda, O Singh, PK Brastianos, IF Dunn, G Zadeh
Publication Date: 2021-02

Variant appearance in text: AKT1: E17K
PubMed Link: 33611710
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of AKT1/β-catenin mutations conferring cetuximab and chemotherapeutic drug resistance in colorectal cancer treatment.

Oncology Letters
G Hasbal-Celikok, P Aksoy-Sagirli, G Altiparmak-Ulbegi, A Can
Publication Date: 2021-03

Variant appearance in text: AKT1: E17K
PubMed Link: 33574948
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Role of mTOR Signaling as a Therapeutic Target in Cancer.

International Journal Of Molecular Sciences
NV Popova, M Jücker
Publication Date: 2021-02-09

Variant appearance in text: AKT1: E17K
PubMed Link: 33572326
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Epigenetic Advances in Focal Cortical Dysplasia Types I and II: A Scoping Review.

Frontiers In Neuroscience
J Jesus-Ribeiro, LM Pires, JD Melo, IP Ribeiro, O Rebelo, F Sales, A Freire, JB Melo
Publication Date: 2020

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33551717
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?

Neurology. Genetics
R Guerrini, M Cavallin, T Pippucci, A Rosati, F Bisulli, P Dimartino, C Barba, R Garbelli, AM Buccoliero, L Tassi, V Conti
Publication Date: 2021-02

Variant appearance in text: AKT1: 49G>A; Glu17Lys
PubMed Link: 33542949
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Druggable targets meet oncogenic drivers: opportunities and limitations of target-based classification of tumors and the role of Molecular Tumor Boards.

Esmo Open
R Danesi, S Fogli, S Indraccolo, M Del Re, AP Dei Tos, L Leoncini, L Antonuzzo, L Bonanno, V Guarneri, A Pierini, G Amunni, P Conte
Publication Date: 2021-02-01

Variant appearance in text: AKT: E17K
PubMed Link: 33540286
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hierarchical tumor heterogeneity mediated by cell contact between distinct genetic subclones.

The Journal Of Clinical Investigation
S Karthikeyan, IG Waters, L Dennison, D Chu, J Donaldson, DH Shin, DM Rosen, PI Gonzalez-Ericsson, V Sanchez, ME Sanders, MV Pantone, RE Bergman, BA Davidson, SC Reed, DJ Zabransky, K Cravero, K Kyker-Snowman, B Button, HY Wong, PJ Hurley, S Croessmann, B Park
Publication Date: 2021-02-02

Variant appearance in text: AKT1: E17K
PubMed Link: 33529175
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Loss of G-Protein Pathway Suppressor 2 Promotes Tumor Growth Through Activation of AKT Signaling.

Frontiers In Cell And Developmental Biology
S Chan, E Smith, Y Gao, J Kwan, BC Blum, AM Tilston-Lunel, I Turcinovic, X Varelas, MD Cardamone, S Monti, A Emili, V Perissi
Publication Date: 2020

Variant appearance in text: AKT: E17K
PubMed Link: 33490071
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
LK Tolusso, P Hazelton, B Wong, DT Swarr
Publication Date: 2021-01-13

Variant appearance in text: AKT1: 49G>A; Glu17Lys
PubMed Link: 33442022
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants.

The Journal Of Pathology. Clinical Research
J Shao, JC Yin, H Bao, R Zhao, Y Han, L Zhu, X Wu, Y Shao, J Zhang
Publication Date: 2021-01-05

Variant appearance in text: AKT1: 49G>A; E17K
PubMed Link: 33400370
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteus syndrome caused by novel somatic AKT1 duplication.

Saudi Medical Journal
T AlAnzi, E Al-Mashharawi, A Alhashem
Publication Date: 2021-01

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33399177
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



[Analysis of Clinical Characteristics of 35 Cases 
of Pulmonary Sclerosing Pneumocytoma].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
X Liu, Z Huang, J Zhang
Publication Date: 2020-12-20

Variant appearance in text: AKT1: E17K
PubMed Link: 33357311
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Cancer Medicine
J Lu, R Yu, R Liu, X Liang, J Sun, H Zhang, H Wu, Z Zhang, YW Shao, J Guo, Z Liang
Publication Date: 2020-12-22

Variant appearance in text: AKT1: E17K
PubMed Link: 33350171
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advances in meningioma genomics, proteomics, and epigenetics: insights into biomarker identification and targeted therapies.

Oncotarget
AA Nazem, J Ruzevick, MJ Ferreira
Publication Date: 2020-12-08

Variant appearance in text: AKT1: E17K
PubMed Link: 33346248
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



The molecular and gene/miRNA expression profiles of radioiodine resistant papillary thyroid cancer.

Journal Of Experimental & Clinical Cancer Research : Cr
C Colombo, E Minna, C Gargiuli, M Muzza, M Dugo, L De Cecco, G Pogliaghi, D Tosi, G Bulfamante, A Greco, L Fugazzola, MG Borrello
Publication Date: 2020-11-16

Variant appearance in text: AKT1: E17K
PubMed Link: 33198784
PubMed Central Link
Variant Present in the following documents:
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Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
GT Lang, YZ Jiang, JX Shi, F Yang, XG Li, YC Pei, CH Zhang, D Ma, Y Xiao, PC Hu, H Wang, YS Yang, LW Guo, XX Lu, MZ Xue, P Wang, AY Cao, H Ling, ZH Wang, KD Yu, GH Di, DQ Li, YJ Wang, Y Yu, LM Shi, X Hu, W Huang, ZM Shao
Publication Date: 2020-11-10

Variant appearance in text: AKT: E17K
PubMed Link: 33173047
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Phase 2 study of buparlisib (BKM120), a pan-class I PI3K inhibitor, in patients with metastatic triple-negative breast cancer.

Breast Cancer Research : Bcr
AC Garrido-Castro, C Saura, R Barroso-Sousa, H Guo, E Ciruelos, B Bermejo, J Gavilá, V Serra, A Prat, L Paré, P Céliz, P Villagrasa, Y Li, J Savoie, Z Xu, CL Arteaga, IE Krop, DB Solit, GB Mills, LC Cantley, EP Winer, NU Lin, J Rodon
Publication Date: 2020-11-02

Variant appearance in text: AKT1: E17K
PubMed Link: 33138866
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Effect of AKT1 (p. E17K) Hotspot Mutation on Malignant Tumorigenesis and Prognosis.

Frontiers In Cell And Developmental Biology
Y Chen, L Huang, Y Dong, C Tao, R Zhang, H Shao, H Shen
Publication Date: 2020

Variant appearance in text: AKT: E17K
PubMed Link: 33123537
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Phase 1 study of the HSP90 inhibitor onalespib in combination with AT7519, a pan-CDK inhibitor, in patients with advanced solid tumors.

Cancer Chemotherapy And Pharmacology
KT Do, G O'Sullivan Coyne, JL Hays, JG Supko, SV Liu, K Beebe, L Neckers, JB Trepel, MJ Lee, T Smyth, C Gannon, J Hedglin, A Muzikansky, S Campos, J Lyons, P Ivy, JH Doroshow, AP Chen, GI Shapiro
Publication Date: 2020-12

Variant appearance in text: AKT: E17K
PubMed Link: 33095286
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Randomized Controlled Trials Versus Real World Evidence: Neither Magic Nor Myth.

Clinical Pharmacology And Therapeutics
HG Eichler, F Pignatti, B Schwarzer-Daum, A Hidalgo-Simon, I Eichler, P Arlett, A Humphreys, S Vamvakas, N Brun, G Rasi
Publication Date: 2020-10-16

Variant appearance in text: AKT1: E17K
PubMed Link: 33063841
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.

Orphanet Journal Of Rare Diseases
W Tian, Y Huang, L Sun, Y Guo, S Zhao, M Lin, X Dong, W Zhong, Y Yin, Z Chen, N Zhang, Y Zhang, L Wang, J Lin, Z Yan, X Yang, J Zhao, G Qiu, J Zhang, Z Wu, N Wu,
Publication Date: 2020-10-14

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 33054853
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Development and characterization of protein kinase B/AKT isoform-specific nanobodies.

Plos One
T Merckaert, O Zwaenepoel, K Gevaert, J Gettemans
Publication Date: 2020

Variant appearance in text: AKT1: E17K
PubMed Link: 33045011
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.

American Journal Of Cancer Research
A Kwong, IW Cheuk, VY Shin, CY Ho, CH Au, DN Ho, EY Wong, SW Yu, J Chen, KK Chan, HY Ngan, TL Chan, ES Ma
Publication Date: 2020

Variant appearance in text: AKT: 49G>A
PubMed Link: 33042626
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Mutant SF3B1 promotes AKT and NF-kB driven mammary tumorigenesis.

The Journal Of Clinical Investigation
B Liu, Z Liu, S Chen, M Ki, C Erickson, JS Reis-Filho, BH Durham, Q Chang, E de Stanchina, Y Sun, R Rabadan, O Abdel-Wahab, S Chandarlapaty
Publication Date: 2020-10-08

Variant appearance in text: AKT: E17K
PubMed Link: 33031100
PubMed Central Link
Variant Present in the following documents:
  • Main text
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An All-In-One Transcriptome-Based Assay to Identify Therapy-Guiding Genomic Aberrations in Nonsmall Cell Lung Cancer Patients.

Cancers
J Wei, AA Rybczynska, P Meng, M Terpstra, A Saber, J Sietzema, W Timens, E Schuuring, TJN Hiltermann, HJM Groen, AJ van der Wekken, A van den Berg, K Kok
Publication Date: 2020-10-01

Variant appearance in text: AKT1: E17K
PubMed Link: 33019710
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Acne following Blaschko's lines in Proteus syndrome.

Jaad Case Reports
AM Cartron, DJ Pithadia, A Buser, LG Biesecker, TN Darling
Publication Date: 2020-10

Variant appearance in text: AKT1: 49G>A
PubMed Link: 33005710
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Hyperprogression: A novel response pattern under immunotherapy.

Clinical And Translational Medicine
XJ Han, A Alu, YN Xiao, YQ Wei, XW Wei
Publication Date: 2020-09

Variant appearance in text: AKT1: E17K
PubMed Link: 32997401
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications
Z Yang, J Xu, L Li, R Li, Y Wang, Y Tian, W Guo, Z Wang, F Tan, J Ying, Y Jiao, S Gao, J Wang, Y Gao, J He
Publication Date: 2020-09-28

Variant appearance in text: AKT1: E17K
PubMed Link: 32985499
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Prevalence of Phosphatidylinositol-3-Kinase (PI3K) Pathway Alterations and Co-alteration of Other Molecular Markers in Breast Cancer.

Frontiers In Oncology
K Khoury, AR Tan, A Elliott, J Xiu, Z Gatalica, AL Heeke, C Isaacs, PR Pohlmann, LS Schwartzberg, M Simon, WM Korn, SM Swain, F Lynce
Publication Date: 2020

Variant appearance in text: AKT1: E17K
PubMed Link: 32983983
PubMed Central Link
Variant Present in the following documents:
  • Main text
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High Sensitivity of Circulating Tumor Cells Derived from a Colorectal Cancer Patient for Dual Inhibition with AKT and mTOR Inhibitors.

Cells
DJ Smit, L Cayrefourcq, MT Haider, N Hinz, K Pantel, C Alix-Panabières, M Jücker
Publication Date: 2020-09-20

Variant appearance in text: AKT: E17K
PubMed Link: 32962206
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Molecular target: pan-AKT in gastric cancer.

Esmo Open
BW Kang, I Chau
Publication Date: 2020-09

Variant appearance in text: AKT: E17K
PubMed Link: 32948630
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Papillary-cystic neoplasms of the middle ear are distinct from endolymphatic sac tumours.

Histopathology
C Taverna, F Pollastri, R Pecci, B Giannoni, C Fattorini, M Santucci, SK Mueller, R Stoehr, A Franchi, A Agaimy
Publication Date: 2020-09-17

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 32940914
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
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The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome.

Embo Molecular Medicine
C Brueffer, S Gladchuk, C Winter, J Vallon-Christersson, C Hegardt, J Häkkinen, AM George, Y Chen, A Ehinger, C Larsson, N Loman, M Malmberg, L Rydén, Å Borg, LH Saal
Publication Date: 2020-10-07

Variant appearance in text: AKT1: E17K
PubMed Link: 32926574
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Cellular and molecular mechanisms of PIK3CA-related vascular anomalies.

Vascular Biology (Bristol, England)
TD Le Cras, E Boscolo
Publication Date: 2019

Variant appearance in text: AKT: E17K
PubMed Link: 32923951
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Exceptional Response to AKT Inhibition in Patients With Breast Cancer and Germline PTEN Mutations.

Jco Precision Oncology
B Kingston, C Bailleux, S Delaloge, G Schiavon, V Scott, M Lacroix-Triki, TH Carr, I Kozarewa, H Gevensleben, Z Kemp, A Pearson, N Turner, F André
Publication Date: 2019

Variant appearance in text: AKT: E17K
PubMed Link: 32923864
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Prioritization of Therapy Options for a Patient With High Tumor Mutation Burden and Microsatellite Instability but No Clinical Benefit From Immunotherapy.

Jco Precision Oncology
RS Nelson, RJ Mehta, HL McLeod, CM Walko
Publication Date: 2019

Variant appearance in text: AKT1: E17K
PubMed Link: 32923851
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial.

The Lancet. Oncology
NC Turner, B Kingston, LS Kilburn, S Kernaghan, AM Wardley, IR Macpherson, RD Baird, R Roylance, P Stephens, O Oikonomidou, JP Braybrooke, M Tuthill, J Abraham, MC Winter, H Bye, M Hubank, H Gevensleben, R Cutts, C Snowdon, D Rea, D Cameron, A Shaaban, K Randle, S Martin, K Wilkinson, L Moretti, JM Bliss, A Ring
Publication Date: 2020-10

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 32919527
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Evaluation of Commercial Circulating Tumor DNA Test in Metastatic Prostate Cancer.

Jco Precision Oncology
S Taavitsainen, M Annala, E Ledet, K Beja, PJ Miller, M Moses, M Nykter, KN Chi, O Sartor, AW Wyatt
Publication Date: 2019

Variant appearance in text: AKT1: E17K
PubMed Link: 32914020
PubMed Central Link
Variant Present in the following documents:
  • Main text
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De Novo ESR1 Hotspot Mutation in a Patient With Endometrial Cancer Treated With an Aromatase Inhibitor.

Jco Precision Oncology
A Morel, J Masliah-Planchon, G Bataillon, V Becette, C Morel, S Antonio, E Girard, I Bièche, C Le Tourneau, M Kamal
Publication Date: 2019

Variant appearance in text: AKT1: 49G>A; E17K
PubMed Link: 32914015
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Exploitation of Precision Medicine Trials Data: Examples of Long Responders From the SHIVA01 Trial.

Jco Precision Oncology
C Basse, C Morel, C Callens, G Pierron, V Servois, A Vincent-Salomon, A Jobard, M Alt, F Ricci, D Loirat, MP Sablin, M Bretagne, M Saint-Ghislain, S Hescot, A Gonçalves, O Tredan, C Dubot, C Gavoille, JP Delord, M Campone, N Isambert, L Belin, I Bieche, M Kamal, C Le Tourneau
Publication Date: 2018

Variant appearance in text: AKT1: Glu17Lys
PubMed Link: 32914004
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Multiplex Gene Profiling of Cell-Free DNA in Patients With Metastatic Melanoma for Monitoring Disease.

Jco Precision Oncology
SY Lin, SK Huang, KT Huynh, MP Salomon, SC Chang, DM Marzese, RB Lanman, A Talasaz, DSB Hoon
Publication Date: 2018

Variant appearance in text: AKT1: E17K
PubMed Link: 32913981
PubMed Central Link
Variant Present in the following documents:
  • Main text
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PTEN Loss-of-Function Alterations Are Associated With Intrinsic Resistance to BRAF Inhibitors in Metastatic Melanoma.

Jco Precision Oncology
F Catalanotti, DT Cheng, AN Shoushtari, DB Johnson, KS Panageas, P Momtaz, C Higham, HH Won, JJ Harding, T Merghoub, N Rosen, JA Sosman, MF Berger, PB Chapman, DB Solit
Publication Date: 2017

Variant appearance in text: AKT: E17K
PubMed Link: 32913971
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Polyphenolic Proanthocyanidin-B2 suppresses proliferation of liver cancer cells and hepatocellular carcinogenesis through directly binding and inhibiting AKT activity.

Redox Biology
G Liu, A Shi, N Wang, M Li, X He, C Yin, Q Tu, X Shen, Y Tao, Q Wang, H Yin
Publication Date: 2020-08-25

Variant appearance in text: AKT: E17K
PubMed Link: 32863234
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1.

Cancers
T Woycinck Kowalski, L Brussa Reis, T Finger Andreis, P Ashton-Prolla, C Rosset
Publication Date: 2020-08-26

Variant appearance in text: AKT1: E17K
PubMed Link: 32858845
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Assessing the Impact of Data Preprocessing on Analyzing Next Generation Sequencing Data.

Frontiers In Bioengineering And Biotechnology
B He, R Zhu, H Yang, Q Lu, W Wang, L Song, X Sun, G Zhang, S Li, J Yang, G Tian, P Bing, J Lang
Publication Date: 2020

Variant appearance in text: AKT: E17K
PubMed Link: 32850708
PubMed Central Link
Variant Present in the following documents:
  • Main text
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Clinical implications of prospective genomic profiling of metastatic breast cancer patients.

Breast Cancer Research : Bcr
CT van Geelen, P Savas, ZL Teo, SJ Luen, CF Weng, YA Ko, KS Kuykhoven, F Caramia, R Salgado, PA Francis, SJ Dawson, SB Fox, A Fellowes, S Loi
Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K
PubMed Link: 32811538
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER project.

Cancer Research And Treatment : Official Journal Of Korean Cancer Association
Y Lee, S Lee, JS Sung, HJ Chung, AR Lim, JW Kim, YJ Choi, KH Park, YH Kim
Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K
PubMed Link: 32810930
PubMed Central Link
Variant Present in the following documents:
  • Main text
  • Supplemental file
View BVdb publication page



Pathogenic postzygotic mosaicism in the tyrosine receptor kinase pathway: potential unidentified human disease hidden away in a few cells.

The Febs Journal
I Tiemann-Boege, T Mair, A Yasari, M Zurovec
Publication Date: 2020-08-18

Variant appearance in text: AKT1: E17K
PubMed Link: 32810928
PubMed Central Link
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000349310.3 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 4/15 -
ENST00000402615.2 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -
ENST00000407796.2 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -
ENST00000554581.1 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 2/13 -
ENST00000554848.1 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -
ENST00000555380.1 c.-138G>A - splice_region_variant,5_prime_UTR_variant 2/5 -
ENST00000555528.1 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -
ENST00000555926.1 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 4/5 -
NM_001014431.2 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -
NM_001014432.1 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 4/15 -
NM_005163.2 c.49G>A p.Glu17Lys missense_variant,splice_region_variant 3/14 -