BRCA2 c.604C>G ;(p.P202A)

Variant ID: 13-32900723-C-G

NM_000059.3(BRCA2):c.604C>G;(p.P202A)

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: BRCA2: P202A
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: BRCA2: 604C>G; Pro202Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: BRCA2: P202A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Interferon-inducible protein 16: insight into the interaction with tumor suppressor p53.

Structure (London, England : 1993)
Liao, Jack C C JC; Lam, Robert R; Brazda, Vaclav V; Duan, Shili S; Ravichandran, Mani M; Ma, Justin J; Xiao, Ting T; Tempel, Wolfram W; Zuo, Xiaobing X; Wang, Yun-Xing YX; Chirgadze, Nickolay Y NY; Arrowsmith, Cheryl H CH
Publication Date: 2011-03-09

Variant appearance in text: BRCA2: p202a
PubMed Link: 21397192
Variant Present in the following documents:
  • Main text
View BVdb publication page