GC c.460G>A ;(p.E154K)

Variant ID: 4-72631162-C-T

NM_000583.3(GC):c.460G>A;(p.E154K)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


Genomic analysis unveils genome degradation events and gene flux in the emergence and persistence of S. Paratyphi A lineages.

Plos Pathogens
Jacob, Jobin John JJ; Pragasam, Agila K AK; Vasudevan, Karthick K; Velmurugan, Aravind A; Priya Teekaraman, Monisha M; Priya Thirumoorthy, Tharani T; Ray, Pallab P; Gupta, Madhu M; Kapil, Arti A; Bai, Sulochana Putil SP; Nagaraj, Savitha S; Saigal, Karnika K; Chandola, Temsunaro Rongsen TR; Thomas, Maria M; Bavdekar, Ashish A; Ebenezer, Sheena Evelyn SE; Shastri, Jayanthi J; De, Anuradha A; Dutta, Shantha S; Alexander, Anna P AP; Koshy, Roshine Mary RM; Jinka, Dasaratha R DR; Singh, Ashita A; Srivastava, Sunil Kumar SK; Anandan, Shalini S; Dougan, Gordon G; John, Jacob J; Kang, Gagandeep G; Veeraraghavan, Balaji B; Mutreja, Ankur A
Publication Date: 2023-04-28

Variant appearance in text: GC: E154K
PubMed Link: 37115804
Variant Present in the following documents:
  • ppat.1010650.pdf
View BVdb publication page



HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GC: 460G>A
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: GC: 460G>A
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
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: GC: 460G>A
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: GC: 460G>A
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GC: 460G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing & mutational analysis of SARS-CoV-2 from patients' faecal samples reveal the possible role in faecal-oral transmission.

The Indian Journal Of Medical Research
Lavania, Mallika M; Potdar, Varsha A VA; Ranshing, Sujata S; Vipat, Veena V; Saha, Ujjayni U; Jadhav, Santosh M SM; Sawant, Pradeep M PM; Padbidri, Vikram V; Chaudhari, Piyush A PA; Patwardhan, Sampada S
Publication Date: 2022-01

Variant appearance in text: GC: E154K
PubMed Link: 35859446
Variant Present in the following documents:
  • Main text
  • IJMR-155-205.pdf
View BVdb publication page



Genomic Analysis of AZD1222 (ChAdOx1) Vaccine Breakthrough Infections in the City of Mumbai.

International Journal Of Clinical Practice
Shetty, Arusha A; Chatterjee, Gaurav G; Rajpal, Sweta S; Srivastava, Tuhina T; Gardi, Nilesh N; Mirgh, Sumeet S; Gokarn, Anant A; Punatar, Sachin S; Shetty, Nitin N; Joshi, Amit A; Nair, Sudhir S; Murthy, Vedang V; Khattry, Navin N; Tembhare, Prashant P; Dikshit, Rajesh R; Chaturvedi, Pankaj P; More, Ashwini A; Kamtalwar, Sujeet S; Chavan, Preeti P; Bhat, Vivek V; Patil, Amar A; Dhumal, Sachin S; Bhat, Prashant P; Subramanian, Papagudi P; Gujral, Sumeet S; Badwe, Rajendra R; Patkar, Nikhil N; Gupta, Sudeep S
Publication Date: 2022

Variant appearance in text: GC: E154K
PubMed Link: 35685574
Variant Present in the following documents:
  • IJCLP2022-2449068.pdf
View BVdb publication page



Genetic and Structural Analysis of SARS-CoV-2 Spike Protein for Universal Epitope Selection.

Molecular Biology And Evolution
Markosian, Christopher C; Staquicini, Daniela I DI; Dogra, Prashant P; Dodero-Rojas, Esteban E; Lubin, Joseph H JH; Tang, Fenny H F FHF; Smith, Tracey L TL; Contessoto, Vinícius G VG; Libutti, Steven K SK; Wang, Zhihui Z; Cristini, Vittorio V; Khare, Sagar D SD; Whitford, Paul C PC; Burley, Stephen K SK; Onuchic, José N JN; Pasqualini, Renata R; Arap, Wadih W
Publication Date: 2022-05-03

Variant appearance in text: GC: E154K
PubMed Link: 35511693
Variant Present in the following documents:
  • msac091_supplementary_data.pdf
View BVdb publication page



Neutralisation Hierarchy of SARS-CoV-2 Variants of Concern Using Standardised, Quantitative Neutralisation Assays Reveals a Correlation With Disease Severity; Towards Deciphering Protective Antibody Thresholds.

Frontiers In Immunology
Cantoni, Diego D; Mayora-Neto, Martin M; Nadesalingam, Angalee A; Wells, David A DA; Carnell, George W GW; Ohlendorf, Luis L; Ferrari, Matteo M; Palmer, Phil P; Chan, Andrew C Y ACY; Smith, Peter P; Bentley, Emma M EM; Einhauser, Sebastian S; Wagner, Ralf R; Page, Mark M; Raddi, Gianmarco G; Baxendale, Helen H; Castillo-Olivares, Javier J; Heeney, Jonathan J; Temperton, Nigel N
Publication Date: 2022

Variant appearance in text: GC: E154K
PubMed Link: 35330908
Variant Present in the following documents:
  • Main text
  • fimmu-13-773982.pdf
View BVdb publication page



Characterization of SARS-CoV-2 Variants B.1.617.1 (Kappa), B.1.617.2 (Delta), and B.1.618 by Cell Entry and Immune Evasion.

Mbio
Ren, Wenlin W; Ju, Xiaohui X; Gong, Mingli M; Lan, Jun J; Yu, Yanying Y; Long, Quanxin Q; Kenney, Devin J DJ; O'Connell, Aoife K AK; Zhang, Yu Y; Zhong, Jin J; Zhong, Guocai G; Douam, Florian F; Wang, Xinquan X; Huang, Ailong A; Zhang, Rong R; Ding, Qiang Q
Publication Date: 2022-04-26

Variant appearance in text: GC: E154K
PubMed Link: 35266815
Variant Present in the following documents:
  • mbio.00099-22.pdf
View BVdb publication page



SARS-CoV-2 Delta Variant Displays Moderate Resistance to Neutralizing Antibodies and Spike Protein Properties of Higher Soluble ACE2 Sensitivity, Enhanced Cleavage and Fusogenic Activity.

Viruses
Neerukonda, Sabari Nath SN; Vassell, Russell R; Lusvarghi, Sabrina S; Wang, Richard R; Echegaray, Fernando F; Bentley, Lisa L; Eakin, Ann E AE; Erlandson, Karl J KJ; Katzelnick, Leah C LC; Weiss, Carol D CD; Wang, Wei W
Publication Date: 2021-12-11

Variant appearance in text: GC: E154K
PubMed Link: 34960755
Variant Present in the following documents:
  • Main text
View BVdb publication page



Development of an efficient Sanger sequencing-based assay for detecting SARS-CoV-2 spike mutations.

Plos One
Lim, Ho Jae HJ; Park, Min Young MY; Jung, Hye Soo HS; Kwon, Youngjin Y; Kim, Inhee I; Kim, Dong Kwan DK; Yu, Nae N; Sung, Nackmoon N; Lee, Sun-Hwa SH; Park, Jung Eun JE; Yang, Yong-Jin YJ
Publication Date: 2021

Variant appearance in text: GC: E154K
PubMed Link: 34905589
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2022-01-15

Variant appearance in text: GC: E154K
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Cross-sectional genomic perspective of epidemic waves of SARS-CoV-2: A pan India study.

Virus Research
Kumar, Sanjeet S; Bansal, Kanika K
Publication Date: 2021-11-22

Variant appearance in text: GC: E154K
PubMed Link: 34822953
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.

Bmc Genomic Data
Zhao, Ting T; Fan, Shanghua S; Sun, Liu L
Publication Date: 2021-11-17

Variant appearance in text: GC: 460G>A
PubMed Link: 34789164
Variant Present in the following documents:
  • 12863_2021_1010_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: GC: 460G>A
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Genome Sequences of the Delta Variant (B.1.617.2) and the Kappa Variant (B.1.617.1) Detected in Morocco.

Microbiology Resource Announcements
Melloul, Marouane M; Chouati, Taha T; Hemlali, Mouhssine M; Alaoui Amine, Sanaa S; Touil, Nadia N; Elannaz, Hicham H; Ennibi, Khalid K; Youbi, Mohammed M; Merabet, Mouad M; Bellefquih, Abdelkrim Meziane AM; Nourlil, Jalal J; Maaroufi, Abderrahmane A; El Fahime, Elmostafa E
Publication Date: 2021-09-30

Variant appearance in text: GC: E154K
PubMed Link: 34591666
Variant Present in the following documents:
  • Main text
  • mra.00727-21.pdf
View BVdb publication page



Genetic drift in the genome of SARS COV-2 and its global health concern.

Journal Of Medical Virology
Bano, Iqra I; Sharif, Mehmoona M; Alam, Sadia S
Publication Date: 2022-01

Variant appearance in text: GC: E154K
PubMed Link: 34524697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine
Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M
Publication Date: 2020-12-30

Variant appearance in text: GC: E154K
PubMed Link: 33380328
Variant Present in the following documents:
  • 12967_2020_2675_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Association of the sEH gene promoter polymorphisms and haplotypes with preeclampsia.

Journal Of Medical Biochemistry
Sarı, İsmail İ; Ökten, Hatice H; Aktan, Çağdaş Ç; Cihan, Esra E
Publication Date: 2020-10-02

Variant appearance in text: GC: 460G>A
PubMed Link: 33312058
Variant Present in the following documents:
  • Main text
  • jomb-39-4-2004428S.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: GC: 460G>A; E154K
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells
Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC
Publication Date: 2020-10-31

Variant appearance in text: GC: 460G>A
PubMed Link: 33115981
Variant Present in the following documents:
  • molce-43-889_Supple.xlsx, sheet 1
View BVdb publication page



Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.

Nature Communications
Bailey, Matthew H MH; Meyerson, William U WU; Dursi, Lewis Jonathan LJ; Wang, Liang-Bo LB; Dong, Guanlan G; Liang, Wen-Wei WW; Weerasinghe, Amila A; Li, Shantao S; Li, Yize Y; Kelso, Sean S; , ; , ; Saksena, Gordon G; Ellrott, Kyle K; Wendl, Michael C MC; Wheeler, David A DA; Getz, Gad G; Simpson, Jared T JT; Gerstein, Mark B MB; Ding, Li L; ,
Publication Date: 2020-09-21

Variant appearance in text: GC: 460G>A
PubMed Link: 32958763
Variant Present in the following documents:
  • 41467_2020_18151_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



A high definition picture of somatic mutations in chronic lymphoproliferative disorder of natural killer cells.

Blood Cancer Journal
Gasparini, Vanessa Rebecca VR; Binatti, Andrea A; Coppe, Alessandro A; Teramo, Antonella A; Vicenzetto, Cristina C; Calabretto, Giulia G; Barilà, Gregorio G; Barizza, Annica A; Giussani, Edoardo E; Facco, Monica M; Mustjoki, Satu S; Semenzato, Gianpietro G; Zambello, Renato R; Bortoluzzi, Stefania S
Publication Date: 2020-04-22

Variant appearance in text: GC: Glu154Lys
PubMed Link: 32321919
Variant Present in the following documents:
  • 41408_2020_309_MOESM4_ESM.pdf
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: GC: 460G>A; Glu154Lys
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Frontiers In Oncology
Ayres-Silva, Jackline P JP; Bonamino, Martin H MH; Gouveia, Maria E ME; Monte-Mor, Barbara C R BCR; Coutinho, Diego F DF; Daumas, Adelmo H AH; Solza, Cristiana C; Braggio, Esteban E; Zalcberg, Ilana Renault IR
Publication Date: 2018

Variant appearance in text: GC: Glu154Lys
PubMed Link: 29515972
Variant Present in the following documents:
  • table_1.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphism of Thiopurine S-methyltransferase in Children with Acute Lymphoblastic Leukemia in Jordan

Asian Pacific Journal Of Cancer Prevention : Apjcp
Alsous, Mervat M; Yousef, Al-Motassem AM; Abdel Jalil, Mariam M; Zawiah, Mohammed M; Yacoub, Shorouq S; Momani, Deema D; Gharabli, Alia A; Omar, Suha S; Rihani, Rawad R
Publication Date: 2018-01-27

Variant appearance in text: GC: 460G>A
PubMed Link: 29373914
Variant Present in the following documents:
  • APJCP-19-199.pdf
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: GC: 460G>A
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: GC: 460G>A
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Landscape of genomic diversity and host adaptation in Fusarium graminearum.

Bmc Genomics
Laurent, Benoit B; Moinard, Magalie M; Spataro, Cathy C; Ponts, Nadia N; Barreau, Christian C; Foulongne-Oriol, Marie M
Publication Date: 2017-02-23

Variant appearance in text: GC: 460G>A
PubMed Link: 28231761
Variant Present in the following documents:
  • 12864_2017_3524_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics
Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ
Publication Date: 2017-02-15

Variant appearance in text: GC: 460G>A
PubMed Link: 28202015
Variant Present in the following documents:
  • 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: GC: 460G>A
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: GC: 460G>A; Glu154Lys
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: GC: E154K
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Integrated genetic and epigenetic analysis defines novel molecular subgroups in rhabdomyosarcoma.

Nature Communications
Seki, Masafumi M; Nishimura, Riki R; Yoshida, Kenichi K; Shimamura, Teppei T; Shiraishi, Yuichi Y; Sato, Yusuke Y; Kato, Motohiro M; Chiba, Kenichi K; Tanaka, Hiroko H; Hoshino, Noriko N; Nagae, Genta G; Shiozawa, Yusuke Y; Okuno, Yusuke Y; Hosoi, Hajime H; Tanaka, Yukichi Y; Okita, Hajime H; Miyachi, Mitsuru M; Souzaki, Ryota R; Taguchi, Tomoaki T; Koh, Katsuyoshi K; Hanada, Ryoji R; Kato, Keisuke K; Nomura, Yuko Y; Akiyama, Masaharu M; Oka, Akira A; Igarashi, Takashi T; Miyano, Satoru S; Aburatani, Hiroyuki H; Hayashi, Yasuhide Y; Ogawa, Seishi S; Takita, Junko J
Publication Date: 2015-07-03

Variant appearance in text: GC: E154K
PubMed Link: 26138366
Variant Present in the following documents:
  • ncomms8557-s3.xlsx, sheet 1
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GC: E154K
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page