BRCA2 c.337A>T ;(p.R113*)

Variant ID: 13-32899233-A-T

NM_000059.3(BRCA2):c.337A>T;(p.R113*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.

Cancer Biology & Therapy
Cheng, Xi X; Yu, Haiming H; Li, Jinying J; Han, Xiaona X; Meng, Erhong E; Zhou, Houqing H; Wang, Dongliang D; Niu, Beifang B; Zhang, Xiaotao X
Publication Date: 2022-12-31

Variant appearance in text: BRCA2: 337A>T
PubMed Link: 35576916
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: 337A>T; Arg113X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page