BRCA1 c.2802G>A ;(p.Q934=)

Variant ID: 17-41244746-C-T

NM_007294.3(BRCA1):c.2802G>A;(p.Q934=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA1: Q934Q
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: BRCA1: Q934Q
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Molecular Oncology
Stordal, Britta B; Timms, Kirsten K; Farrelly, Angela A; Gallagher, Danielle D; Busschots, Steven S; Renaud, Mickaël M; Thery, Julien J; Williams, Deborah D; Potter, Jennifer J; Tran, Thanh T; Korpanty, Greg G; Cremona, Mattia M; Carey, Mark M; Li, Jie J; Li, Yang Y; Aslan, Ozlem O; O'Leary, John J JJ; Mills, Gordon B GB; Hennessy, Bryan T BT
Publication Date: 2013-06

Variant appearance in text: BRCA1: Q934Q
PubMed Link: 23415752
Variant Present in the following documents:
  • Main text
View BVdb publication page