BRCA1 c.4238A>G ;(p.E1413G)

Variant ID: 17-41234540-T-C

NM_007294.3(BRCA1):c.4238A>G;(p.E1413G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: E1413G
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 4238A>G; Glu1413Gly
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Sequential Therapy with PARP and WEE1 Inhibitors Minimizes Toxicity while Maintaining Efficacy.

Cancer Cell
Fang, Yong Y; McGrail, Daniel J DJ; Sun, Chaoyang C; Labrie, Marilyne M; Chen, Xiaohua X; Zhang, Dong D; Ju, Zhenlin Z; Vellano, Christopher P CP; Lu, Yiling Y; Li, Yongsheng Y; Jeong, Kang Jin KJ; Ding, Zhiyong Z; Liang, Jiyong J; Wang, Steven W SW; Dai, Hui H; Lee, Sanghoon S; Sahni, Nidhi N; Mercado-Uribe, Imelda I; Kim, Tae-Beom TB; Chen, Ken K; Lin, Shiaw-Yih SY; Peng, Guang G; Westin, Shannon N SN; Liu, Jinsong J; O'Connor, Mark J MJ; Yap, Timothy A TA; Mills, Gordon B GB
Publication Date: 2019-06-10

Variant appearance in text: BRCA1: E1413G
PubMed Link: 31185210
Variant Present in the following documents:
  • Main text
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: E1413G
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page