BRCA2 c.952_953delinsGC ;(p.K318A)

Variant ID: 13-32906567-AA-GC

NM_000059.3(BRCA2):c.952_953delinsGC;(p.K318A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

The DNA-binding activity of USP1-associated factor 1 is required for efficient RAD51-mediated homologous DNA pairing and homology-directed DNA repair.

The Journal Of Biological Chemistry
Liang, Fengshan F; Miller, Adam S AS; Tang, Caroline C; Maranon, David D; Williamson, Elizabeth A EA; Hromas, Robert R; Wiese, Claudia C; Zhao, Weixing W; Sung, Patrick P; Kupfer, Gary M GM
Publication Date: 2020-06-12

Variant appearance in text: BRCA2: K318A
PubMed Link: 32350107
Variant Present in the following documents:
  • Main text
View BVdb publication page