BRCA2 c.1003G>T ;(p.E335*)

Variant ID: 13-32906618-G-T

NM_000059.3(BRCA2):c.1003G>T;(p.E335*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: 1003G>T; Glu335X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Targeted deep sequencing revealed variants in cell-free DNA of hormone receptor-positive metastatic breast cancer patients.

Cellular And Molecular Life Sciences : Cmls
Keup, Corinna C; Benyaa, Karim K; Hauch, Siegfried S; Sprenger-Haussels, Markus M; Tewes, Mitra M; Mach, Pawel P; Bittner, Ann-Kathrin AK; Kimmig, Rainer R; Hahn, Peter P; Kasimir-Bauer, Sabine S
Publication Date: 2020-02

Variant appearance in text: BRCA2: 1003G>T; E335*
PubMed Link: 31254045
Variant Present in the following documents:
  • 18_2019_3189_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page