HRAS c.81T>C ;(p.H27=)

Variant ID: 11-534242-A-G

NM_005343.2(HRAS):c.81T>C;(p.H27=)

This variant was identified in 107 publications

View GRCh38 version.




Publications:


Genomic profiles of Indonesian colorectal cancer patients.

F1000Research
Abdullah, Murdani M; Meilany, Sofy S; Trimarsanto, Hidayat H; Malik, Safarina G SG; Sukartini, Ninik N; Idrus, Firhat F; Nursyirwan, Saskia A SA; Muzellina, Virly N VN; Pribadi, Rabbinu R RR; Utari, Amanda P AP; Maulahela, Hasan H; Syam, Ari F AF
Publication Date: 2022

Variant appearance in text: HRAS: H27H
PubMed Link: 37125020
Variant Present in the following documents:
  • f1000research-11-144370.pdf
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: HRAS: 81T>C
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: HRAS: 81T>C; H27H; rs12628
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: HRAS: 81T>C; rs12628
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Impact of cognition-related single nucleotide polymorphisms on brain imaging phenotype in Parkinson's disease.

Neural Regeneration Research
Shen, Ting T; Pu, Jia-Li JL; Jiang, Ya-Si YS; Yue, Yu-Mei YM; He, Ting-Ting TT; Qu, Bo-Yi BY; Zhao, Shuai S; Yan, Ya-Ping YP; Lai, Hsin-Yi HY; Zhang, Bao-Rong BR
Publication Date: 2023-05

Variant appearance in text: rs12628
PubMed Link: 36255006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: HRAS: H27H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM12_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
View BVdb publication page



Germline SNPs previously implicated as prognostic biomarkers do not associate with outcomes in intensively treated AML.

Blood Advances
Batcha, Aarif M N AMN; Buckup, Nele N; Bamopoulos, Stefanos A SA; Jurinovic, Vindi V; Rothenberg-Thurley, Maja M; Gittinger, Hanna H; Ksienzyk, Bianka B; Dufour, Annika A; Schneider, Stephanie S; Kontro, Mika M; Saad, Joseph J; Heckman, Caroline A CA; Sauerland, Cristina M CM; Görlich, Dennis D; Berdel, Wolfgang E WE; Wörmann, Bernhard B; Krug, Utz U; Braess, Jan J; Mansmann, Ulrich Robert UR; Hiddemann, Wolfgang W; Spiekermann, Karsten K; Metzeler, Klaus H KH; Herold, Tobias T
Publication Date: 2022-09-23

Variant appearance in text: rs12628
PubMed Link: 36149944
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Fecal gene detection based on next generation sequencing for colorectal cancer diagnosis.

World Journal Of Gastroenterology
He, Si-Yu SY; Li, Ying-Chun YC; Wang, Yong Y; Peng, Hai-Lin HL; Zhou, Cheng-Lin CL; Zhang, Chuan-Meng CM; Chen, Sheng-Lan SL; Yin, Jian-Feng JF; Lin, Mei M
Publication Date: 2022-07-07

Variant appearance in text: HRAS: H27H
PubMed Link: 35978873
Variant Present in the following documents:
  • WJG-28-2920.pdf
View BVdb publication page



Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
Publication Date: 2022-06-29

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 35768426
Variant Present in the following documents:
  • 41531_2022_346_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: HRAS: 81T>C; rs12628
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Diffuse invasive signet ring cell carcinoma in total colorectum caused by ulcerative colitis: A case report and review of literature.

World Journal Of Clinical Cases
Zhang, Zhi Z; Yu, Peng-Fei PF; Gu, Guo-Li GL; Zhang, Yu-Hui YH; Wang, Yu-Ming YM; Dong, Zhi-Wei ZW; Yang, Hai-Rui HR
Publication Date: 2022-02-16

Variant appearance in text: HRAS: 81T>C; H27H
PubMed Link: 35211616
Variant Present in the following documents:
  • WJCC-10-1729.pdf
View BVdb publication page



The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells
Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C
Publication Date: 2022-01-03

Variant appearance in text: HRAS: 81T>C
PubMed Link: 35011712
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells
Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C
Publication Date: 2022-01-03

Variant appearance in text: HRAS: 81T>C
PubMed Link: 35011712
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variations in MAP kinase gladiators and risk of differentiated thyroid carcinoma.

Molecular And Clinical Oncology
Rashid, Faiza A FA; Bhat, Ghulam Hassan GH; Khan, Mosin S MS; Tabassum, Sobia S; Bhat, Mohammad Hayat MH
Publication Date: 2022-02

Variant appearance in text: HRAS: His27His; rs12628
PubMed Link: 35003743
Variant Present in the following documents:
  • Main text
  • mco-16-02-02478.pdf
View BVdb publication page



Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology
Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD
Publication Date: 2021-11-18

Variant appearance in text: HRAS: 81T>C; H27H; rs12628
PubMed Link: 34797250
Variant Present in the following documents:
  • ct9-12-e00431-s006.xlsx, sheet 1
  • ct9-12-e00431-s005.xlsx, sheet 1
View BVdb publication page



Single-cell transcriptomic analysis of the tumor ecosystems underlying initiation and progression of papillary thyroid carcinoma.

Nature Communications
Pu, Weilin W; Shi, Xiao X; Yu, Pengcheng P; Zhang, Meiying M; Liu, Zhiyan Z; Tan, Licheng L; Han, Peizhen P; Wang, Yu Y; Ji, Dongmei D; Gan, Hualei H; Wei, Wenjun W; Lu, Zhongwu Z; Qu, Ning N; Hu, Jiaqian J; Hu, Xiaohua X; Luo, Zaili Z; Li, Huajun H; Ji, Qinghai Q; Wang, Jiucun J; Zhang, Xiaoming X; Wang, Yu-Long YL
Publication Date: 2021-10-18

Variant appearance in text: HRAS: H27H
PubMed Link: 34663816
Variant Present in the following documents:
  • 41467_2021_26343_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Potential Core Genes in Parkinson's Disease Using Bioinformatics Analysis.

Parkinson'S Disease
Quan, Wei W; Li, Jia J; Jin, Xiya X; Liu, Li L; Zhang, Qinghui Q; Qin, Yidan Y; Pei, Xiaochen X; Chen, Jiajun J
Publication Date: 2021

Variant appearance in text: rs12628
PubMed Link: 34580608
Variant Present in the following documents:
  • Main text
  • PD2021-1690341.pdf
View BVdb publication page



Multivariable clinical-genetic model for predicting dyskinesia in early-onset Parkinson's disease.

Translational Neurodegeneration
Chen, Yong-Ping YP; Ou, Ru-Wei RW; Gu, Xiao-Jing XJ; Zhang, Ling-Yu LY; Cao, Bei B; Hou, Yan-Bing YB; Liu, Kun-Cheng KC; Lin, Jun-Yu JY; Wei, Qian-Qian QQ; Zhao, Bi B; Wu, Ying Y; Shang, Hui-Fang HF
Publication Date: 2021-07-29

Variant appearance in text: rs12628
PubMed Link: 34325746
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_251.pdf
View BVdb publication page



PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.

Journal For Immunotherapy Of Cancer
Stein, Alexander A; Simnica, Donjete D; Schultheiß, Christoph C; Scholz, Rebekka R; Tintelnot, Joseph J; Gökkurt, Eray E; von Wenserski, Lisa L; Willscher, Edith E; Paschold, Lisa L; Sauer, Markus M; Lorenzen, Sylvie S; Riera-Knorrenschild, Jorge J; Depenbusch, Reinhard R; Ettrich, Thomas J TJ; Dörfel, Steffen S; Al-Batran, Salah-Eddin SE; Karthaus, Meinolf M; Pelzer, Uwe U; Waberer, Lisa L; Hinke, Axel A; Bauer, Marcus M; Massa, Chiara C; Seliger, Barbara B; Wickenhauser, Claudia C; Bokemeyer, Carsten C; Hegewisch-Becker, Susanna S; Binder, Mascha M
Publication Date: 2021-07

Variant appearance in text: HRAS: 81T>C; His27His; rs12628
PubMed Link: 34315821
Variant Present in the following documents:
  • jitc-2021-002844supp002.xlsx, sheet 1
View BVdb publication page



Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences
Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK
Publication Date: 2021-04-09

Variant appearance in text: HRAS: 81T>C; His27=
PubMed Link: 33918692
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: HRAS: 81T>C; H27H
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs12628
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
  • pone.0243084.pdf
View BVdb publication page



Association analysis between the interaction of RAS family genes mutations and papillary thyroid carcinoma in the Han Chinese population.

International Journal Of Medical Sciences
Jin, Mengdi M; Li, Zhijun Z; Sun, Yaoyao Y; Zhang, Mingyuan M; Chen, Xin X; Zhao, Hongguang H; Yu, Qiong Q
Publication Date: 2021

Variant appearance in text: rs12628
PubMed Link: 33390813
Variant Present in the following documents:
  • Main text
  • ijmsv18p0441.pdf
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: HRAS: 81T>C; rs12628
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Long QT and Silver Russell syndrome: First case report in a 9-year-old girl.

Heartrhythm Case Reports
Roses-Noguer, Ferran F; Martinez-Villar, Maria M; Honti, Frank F; Edwards, Matthew M; Till, Jan J; Morris-Rosendahl, Deborah J DJ
Publication Date: 2020-09

Variant appearance in text: rs12628
PubMed Link: 32983873
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers
Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L
Publication Date: 2020-09-09

Variant appearance in text: HRAS: His27His
PubMed Link: 32917028
Variant Present in the following documents:
  • cancers-12-02571-s001.pdf
View BVdb publication page



Analysis of Circulating Tumor DNA to Predict Neoadjuvant Therapy Effectiveness and Breast Cancer Recurrence.

Journal Of Breast Cancer
Hao, Shuai S; Tian, Wuguo W; Zhao, Jianjie J; Chen, Yi Y; Zhang, Xiaohua X; Gao, Bo B; He, Yujun Y; Luo, Donglin D
Publication Date: 2020-08

Variant appearance in text: HRAS: 81T>C; rs12628
PubMed Link: 32908788
Variant Present in the following documents:
  • jbc-23-373-s004.xls, sheet 1
View BVdb publication page



A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports
García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C
Publication Date: 2020-08-31

Variant appearance in text: HRAS: 81T>C; His27=
PubMed Link: 32867815
Variant Present in the following documents:
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 2
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1
  • 13256_2020_2451_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



"Reprogram Enablement" as an Assay for Identifying Early Oncogenic Pathways by Their Ability to Allow Neoplastic Cells to Reacquire an Epiblast State.

Stem Cell Reports
Kong, Yanjun Y; Gimple, Ryan C RC; McVicar, Rachael N RN; Hodges, Andrew P AP; Yin, Jun J; Liu, Yang Y; Zhan, Weiwei W; Snyder, Evan Y EY
Publication Date: 2020-09-08

Variant appearance in text: HRAS: His27His; rs12628
PubMed Link: 32795421
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Mutation analysis and genomic imbalances of cells found in effusion fluids from patients with ovarian cancer.

Oncology Letters
Brunetti, Marta M; Panagopoulos, Ioannis I; Kostolomov, Ilyá I; Davidson, Ben B; Heim, Sverre S; Micci, Francesca F
Publication Date: 2020-09

Variant appearance in text: HRAS: 81T>C
PubMed Link: 32782545
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing.

F1000Research
Butt, Ejaz E; Alyami, Sabra S; Nageeti, Tahani T; Saeed, Muhammad M; AlQuthami, Khalid K; Bouazzaoui, Abdellatif A; Athar, Mohammad M; Abduljaleel, Zainularifeen Z; Al-Allaf, Faisal F; Taher, Mohiuddin M
Publication Date: 2019

Variant appearance in text: HRAS: 81T>C; His27His; rs12628
PubMed Link: 32612806
Variant Present in the following documents:
  • Main text
  • f1000research-8-27281.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?

European Journal Of Human Genetics : Ejhg
Ferrari, Luca L; Mangano, Eleonora E; Bonati, Maria Teresa MT; Monterosso, Ilaria I; Capitanio, Daniele D; Chiappori, Federica F; Brambilla, Ilaria I; Gelfi, Cecilia C; Battaglia, Cristina C; Bordoni, Roberta R; Riva, Paola P
Publication Date: 2020-10

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 32514133
Variant Present in the following documents:
  • 41431_2020_658_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports
Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K
Publication Date: 2020-07

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 32440349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: HRAS: 81T>C; His27=
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Squamous cell transformation as a mechanism of acquired resistance to tyrosine kinase inhibitor in EGFR-mutated lung adenocarcinoma: a report of two cases.

Respirology Case Reports
Uruga, Hironori H; Fujii, Takeshi T; Nakamura, Nobuyuki N; Moriguchi, Shuhei S; Kishi, Kazuma K; Takaya, Hisashi H
Publication Date: 2020-03

Variant appearance in text: HRAS: 81T>C; H27H
PubMed Link: 31956415
Variant Present in the following documents:
  • Main text
  • RCR2-8-e00521.pdf
View BVdb publication page



Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)
Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL
Publication Date: 2019-12

Variant appearance in text: HRAS: H27H
PubMed Link: 31896942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: HRAS: 81T>C; His27=
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports
D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F
Publication Date: 2019-11-21

Variant appearance in text: HRAS: 81T>C; H27H
PubMed Link: 31754145
Variant Present in the following documents:
  • 41598_2019_53660_MOESM1_ESM.pdf
View BVdb publication page



Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports
McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,
Publication Date: 2019-11-19

Variant appearance in text: HRAS: 81T>C; H27H
PubMed Link: 31745186
Variant Present in the following documents:
  • 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: HRAS: 81T>C; His27=; rs12628
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM10_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM10_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 3
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: HRAS: H27H; rs12628
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Clinical Validation of Discordant Trunk Driver Mutations in Paired Primary and Metastatic Lung Cancer Specimens.

American Journal Of Clinical Pathology
Tseng, Li-Hui LH; De Marchi, Federico F; Pallavajjalla, Aparna A; Rodriguez, Erika E; Xian, Rena R; Belchis, Deborah D; Gocke, Christopher D CD; Eshleman, James R JR; Illei, Peter P; Lin, Ming-Tseh MT
Publication Date: 2019-10-07

Variant appearance in text: HRAS: 81T>C; H27=; rs12628
PubMed Link: 31264684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differences in Mutational Profile between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma Identified Using Next Generation Sequencing.

International Journal Of Molecular Sciences
Borowczyk, Martyna M; Szczepanek-Parulska, Ewelina E; Dębicki, Szymon S; Budny, Bartłomiej B; Verburg, Frederik A FA; Filipowicz, Dorota D; Więckowska, Barbara B; Janicka-Jedyńska, Małgorzata M; Gil, Lidia L; Ziemnicka, Katarzyna K; Ruchała, Marek M
Publication Date: 2019-06-26

Variant appearance in text: rs12628
PubMed Link: 31248021
Variant Present in the following documents:
  • ijms-20-03126-s001.pdf
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: HRAS: 81T>C
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HRAS: 81T>C; His27His; rs12628
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: HRAS: 81T>C; His27His
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
View BVdb publication page



Polymorphisms in RAS/RAF/MEK/ERK Pathway Are Associated with Gastric Cancer.

Genes
Gonzalez-Hormazabal, Patricio P; Musleh, Maher M; Bustamante, Marco M; Stambuk, Juan J; Pisano, Raul R; Valladares, Hector H; Lanzarini, Enrique E; Chiong, Hector H; Rojas, Jorge J; Suazo, Jose J; Castro, V Gonzalo VG; Jara, Lilian L; Berger, Zoltan Z
Publication Date: 2018-12-28

Variant appearance in text: rs12628
PubMed Link: 30597917
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.

Oncotarget
Namatame, Nachi N; Tamaki, Naomi N; Yoshizawa, Yuya Y; Okamura, Mutsumi M; Nishimura, Yumiko Y; Yamazaki, Kanami K; Tanaka, Miwa M; Nakamura, Takuro T; Semba, Kentaro K; Yamori, Takao T; Yaguchi, Shin-Ichi SI; Dan, Shingo S
Publication Date: 2018-10-12

Variant appearance in text: HRAS: H27H
PubMed Link: 30416685
Variant Present in the following documents:
  • Main text
  • oncotarget-09-35141.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: HRAS: 81T>C; rs12628
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: HRAS: 81T>C; H27H; rs12628
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_17.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: HRAS: 81T>C; H27H; rs12628
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Association Between 12 Polymorphisms of VEGF/Hypoxia/Angiogenesis Pathway Genes and Risk of Urogenital Carcinomas: A Meta-Analysis Based on Case-Control Studies.

Frontiers In Physiology
Chen, Jin-Bo JB; Zhang, Meng M; Cui, Yu Y; Liu, Pei-Hua PH; Qi, Yan-Wei YW; Li, Chao C; Cheng, Xu X; Ren, Wen-Biao WB; Li, Qia-Qia QQ; Liu, Long-Fei LF; Chen, Min-Feng MF; Chen, He-Qun HQ; Zu, Xiong-Bing XB
Publication Date: 2018

Variant appearance in text: rs12628
PubMed Link: 29942264
Variant Present in the following documents:
  • Main text
  • fphys-09-00715.pdf
View BVdb publication page