ERBB2 c.1621G>A ;(p.V541M)

Variant ID: 17-37872661-G-A

NM_004448.2(ERBB2):c.1621G>A;(p.V541M)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The HER2 S310F Mutant Can Form an Active Heterodimer with the EGFR, Which Can Be Inhibited by Cetuximab but Not by Trastuzumab as well as Pertuzumab.

Biomolecules
Shin, Jung Won JW; Kim, Soohyun S; Ha, Suji S; Choi, Byungsan B; Kim, Seongyeong S; Im, Seock-Ah SA; Yoon, Tae-Young TY; Chung, Junho J
Publication Date: 2019-10-19

Variant appearance in text: HER2: V541M
PubMed Link: 31635022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00629.pdf
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: ERBB2: 1621G>A
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



The genomic landscape of TERT promoter wildtype-IDH wildtype glioblastoma.

Nature Communications
Diplas, Bill H BH; He, Xujun X; Brosnan-Cashman, Jacqueline A JA; Liu, Heng H; Chen, Lee H LH; Wang, Zhaohui Z; Moure, Casey J CJ; Killela, Patrick J PJ; Loriaux, Daniel B DB; Lipp, Eric S ES; Greer, Paula K PK; Yang, Rui R; Rizzo, Anthony J AJ; Rodriguez, Fausto J FJ; Friedman, Allan H AH; Friedman, Henry S HS; Wang, Sizhen S; He, Yiping Y; McLendon, Roger E RE; Bigner, Darell D DD; Jiao, Yuchen Y; Waitkus, Matthew S MS; Meeker, Alan K AK; Yan, Hai H
Publication Date: 2018-05-25

Variant appearance in text: ERBB2: V541M
PubMed Link: 29802247
Variant Present in the following documents:
  • 41467_2018_4448_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: ERBB2: 1621G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ERBB2: 1621G>A; V541M
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Oncogenic RIT1 mutations in lung adenocarcinoma.

Oncogene
Berger, A H AH; Imielinski, M M; Duke, F F; Wala, J J; Kaplan, N N; Shi, G-X GX; Andres, D A DA; Meyerson, M M
Publication Date: 2014-08-28

Variant appearance in text: ERBB2: V541M
PubMed Link: 24469055
Variant Present in the following documents:
  • onc2013581x2.xls, sheet 1
View BVdb publication page