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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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