BRCA2 c.4288A>G ;(p.T1430A)

Variant ID: 13-32912780-A-G

NM_000059.3(BRCA2):c.4288A>G;(p.T1430A)

This variant was identified in 8 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: T1430A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: T1430A
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
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: 4288A>G; Thr1430Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA2: 4288A>G; Thr1430Ala; rs1555283691
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
  • 41436_2019_740_MOESM2_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: T1430A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Structure-activity relationship of the peptide binding-motif mediating the BRCA2:RAD51 protein-protein interaction.

Febs Letters
Scott, Duncan E DE; Marsh, May M; Blundell, Tom L TL; Abell, Chris C; Hyvönen, Marko M
Publication Date: 2016-04

Variant appearance in text: BRCA2: T1430A
PubMed Link: 26992456
Variant Present in the following documents:
  • Main text
  • FEB2-590-1094.pdf
View BVdb publication page



BRCA2 coordinates the activities of cell-cycle kinases to promote genome stability.

Cell Reports
Yata, Keiko K; Bleuyard, Jean-Yves JY; Nakato, Ryuichiro R; Ralf, Christine C; Katou, Yuki Y; Schwab, Rebekka A RA; Niedzwiedz, Wojciech W; Shirahige, Katsuhiko K; Esashi, Fumiko F
Publication Date: 2014-06-12

Variant appearance in text: BRCA2: T1430A
PubMed Link: 24835992
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



BRCA2 BRC motifs bind RAD51-DNA filaments.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Galkin, Vitold E VE; Esashi, Fumiko F; Yu, Xiong X; Yang, Shixin S; West, Stephen C SC; Egelman, Edward H EH
Publication Date: 2005-06-14

Variant appearance in text: BRCA2: T1430A
PubMed Link: 15937124
Variant Present in the following documents:
  • Main text
View BVdb publication page