BRCA1 c.2701_2702delinsGC ;(p.F901A)

Variant ID: 17-41244846-AA-GC

NM_007294.3(BRCA1):c.2701_2702delinsGC;(p.F901A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The K898E germline variant in the PP1-binding motif of BRCA1 causes defects in DNA Repair.

Scientific Reports
Chen, Bert Yu-Hung BY; Huang, Cheng-Hsiang CH; Lin, Ying-Hsi YH; Huang, Ching-Chun CC; Deng, Chu-Xia CX; Hsu, Lih-Ching LC
Publication Date: 2014-07-24

Variant appearance in text: BRCA1: F901A
PubMed Link: 25056273
Variant Present in the following documents:
  • Main text
  • srep05812.pdf
  • srep05812-s1.pdf
View BVdb publication page



A PP1-binding motif present in BRCA1 plays a role in its DNA repair function.

International Journal Of Biological Sciences
Yu, Young-Mi YM; Pace, Serena M SM; Allen, Susan R SR; Deng, Chu-Xia CX; Hsu, Lih-Ching LC
Publication Date: 2008

Variant appearance in text: BRCA1: F901A
PubMed Link: 18953404
Variant Present in the following documents:
  • Main text
  • ijbsv04p0352.pdf
View BVdb publication page



Identification and functional characterization of a PP1-binding site in BRCA1.

Biochemical And Biophysical Research Communications
Hsu, Lih-Ching LC
Publication Date: 2007-08-24

Variant appearance in text: BRCA1: F901A
PubMed Link: 17603999
Variant Present in the following documents:
  • Main text
View BVdb publication page