BRCA1 c.1952A>G ;(p.K651R)

Variant ID: 17-41245596-T-C

NM_007294.3(BRCA1):c.1952A>G;(p.K651R)

This variant was identified in 6 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: K651R
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: 1952A>G; Lys651Arg
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Screening, diagnosis and genetic study of breast cancer patients in Pakistan.

Pakistan Journal Of Medical Sciences
Majeed, Ayesha Isani AI; Ullah, Asmat A; Jadoon, Muniba M; Ahmad, Wasim W; Riazuddin, Sheikh S
Publication Date: 2020

Variant appearance in text: BRCA1: 1952A>G; Lys651Arg
PubMed Link: 32063924
Variant Present in the following documents:
  • Main text
  • PJMS-36-16.pdf
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: BRCA1: K651R
PubMed Link: 30709382
Variant Present in the following documents:
  • Main text
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: BRCA1: K651R
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Reduced FANCD2 influences spontaneous SCE and RAD51 foci formation in uveal melanoma and Fanconi anaemia.

Oncogene
Gravells, P P; Hoh, L L; Solovieva, S S; Patil, A A; Dudziec, E E; Rennie, I G IG; Sisley, K K; Bryant, H E HE
Publication Date: 2013-11-14

Variant appearance in text: BRCA1: K651R
PubMed Link: 23318456
Variant Present in the following documents:
  • Main text
  • onc2012627a.pdf
View BVdb publication page