BRCA2 c.251A>C ;(p.Q84P)

Variant ID: 13-32893397-A-C

NM_000059.3(BRCA2):c.251A>C;(p.Q84P)

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: Q84P
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: 251A>C; Gln84Pro
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A highly efficient and faithful MDS patient-derived xenotransplantation model for pre-clinical studies.

Nature Communications
Song, Yuanbin Y; Rongvaux, Anthony A; Taylor, Ashley A; Jiang, Tingting T; Tebaldi, Toma T; Balasubramanian, Kunthavai K; Bagale, Arun A; Terzi, Yunus Kasim YK; Gbyli, Rana R; Wang, Xiaman X; Fu, Xiaoying X; Gao, Yimeng Y; Zhao, Jun J; Podoltsev, Nikolai N; Xu, Mina M; Neparidze, Natalia N; Wong, Ellice E; Torres, Richard R; Bruscia, Emanuela M EM; Kluger, Yuval Y; Manz, Markus G MG; Flavell, Richard A RA; Halene, Stephanie S
Publication Date: 2019-01-21

Variant appearance in text: BRCA2: Q84P
PubMed Link: 30664659
Variant Present in the following documents:
  • 41467_2018_8166_MOESM1_ESM.pdf
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: Q84P
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page