BRCA1 c.4327C>A ;(p.R1443=)

Variant ID: 17-41234451-G-T

NM_007294.3(BRCA1):c.4327C>A;(p.R1443=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 4327C>A
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



Landscape of homologous recombination deficiencies in solid tumours: analyses of two independent genomic datasets.

Bmc Cancer
Lai, Zhongwu Z; Brosnan, Matthew M; Sokol, Ethan S ES; Xie, Mingchao M; Dry, Jonathan R JR; Harrington, Elizabeth A EA; Barrett, J Carl JC; Hodgson, Darren D
Publication Date: 2022-01-03

Variant appearance in text: BRCA1: R1443R
PubMed Link: 34979999
Variant Present in the following documents:
  • 12885_2021_9082_MOESM1_ESM.pdf
View BVdb publication page



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: R1443R
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page