BRCA2 c.409T>G ;(p.S137A)

Variant ID: 13-32899305-T-G

NM_000059.3(BRCA2):c.409T>G;(p.S137A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Profilin-1 regulates DNA replication forks in a context-dependent fashion by interacting with SNF2H and BOD1L.

Nature Communications
Zhu, Cuige C; Iwase, Mari M; Li, Ziqian Z; Wang, Faliang F; Quinet, Annabel A; Vindigni, Alessandro A; Shao, Jieya J
Publication Date: 2022-11-01

Variant appearance in text: BRCA2: S137A
PubMed Link: 36319634
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_34310.pdf
View BVdb publication page



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: S137A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Proceedings to the 2020 Online Conference of the Particle Therapy Cooperative Group (PTCOG2020Online): 13-14 September 2020Organized by the Particle Therapy Cooperative Group (PTCOG), this special online meeting featured abstracts and programs that enabled the communication and cross fertilization for which PTCOG meetings are known.

International Journal Of Particle Therapy
Publication Date: 2021

Variant appearance in text: BRCA2: s137a
PubMed Link: 33829075
Variant Present in the following documents:
  • Main text
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: 409T>G; Ser137Ala
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: S137A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page