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BRCA1 c.5104_5105delinsGC ;(p.K1702A)
Variant ID: 17-41215938-TT-GC
NM_007294.3(
BRCA1
):c.5104_5105delinsGC;(p.K1702A)
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:
Regulation of the DNA damage response on male meiotic sex chromosomes.
Nature Communications
Lu, Lin-Yu LY; Xiong, Yi Y; Kuang, Henry H; Korakavi, Gautam G; Yu, Xiaochun X
Publication Date: 2013
Variant appearance in text: BRCA1: K1702A
PubMed Link:
23812044
Variant Present in the following documents:
Main text
nihms489007.pdf
View BVdb publication page
Function of BRCA1 in the DNA damage response is mediated by ADP-ribosylation.
Cancer Cell
Li, Mo M; Yu, Xiaochun X
Publication Date: 2013-05-13
Variant appearance in text: BRCA1: K1702A
PubMed Link:
23680151
Variant Present in the following documents:
Main text
View BVdb publication page
Structural basis of BACH1 phosphopeptide recognition by BRCA1 tandem BRCT domains.
Structure (London, England : 1993)
Botuyan, Maria Victoria E MV; Nominé, Yves Y; Yu, Xiaochun X; Juranic, Nenad N; Macura, Slobodan S; Chen, Junjie J; Mer, Georges G
Publication Date: 2004-07
Variant appearance in text: BRCA1: K1702A
PubMed Link:
15242590
Variant Present in the following documents:
Main text
View BVdb publication page