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BRCA2 c.835_836delinsGC ;(p.C279A)
Variant ID: 13-32906450-TG-GC
NM_000059.3(
BRCA2
):c.835_836delinsGC;(p.C279A)
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:
Intrinsic Disorder and Phosphorylation in BRCA2 Facilitate Tight Regulation of Multiple Conserved Binding Events.
Biomolecules
Julien, Manon M; Ghouil, Rania R; Petitalot, Ambre A; Caputo, Sandrine M SM; Carreira, Aura A; Zinn-Justin, Sophie S
Publication Date: 2021-07-20
Variant appearance in text: BRCA2: C279A
PubMed Link:
34356684
Variant Present in the following documents:
Main text
biomolecules-11-01060.pdf
View BVdb publication page
Understanding BRCA2 Function as a Tumor Suppressor Based on Domain-Specific Activities in DNA Damage Responses.
Genes
Andreassen, Paul R PR; Seo, Joonbae J; Wiek, Constanze C; Hanenberg, Helmut H
Publication Date: 2021-07-02
Variant appearance in text: BRCA2: C279A
PubMed Link:
34356050
Variant Present in the following documents:
Main text
View BVdb publication page
A second DNA binding site in human BRCA2 promotes homologous recombination.
Nature Communications
von Nicolai, Catharina C; Ehlén, Åsa Å; Martin, Charlotte C; Zhang, Xiaodong X; Carreira, Aura A
Publication Date: 2016-09-15
Variant appearance in text: BRCA2: C279A
PubMed Link:
27628236
Variant Present in the following documents:
Main text
ncomms12813-s1.pdf
ncomms12813.pdf
View BVdb publication page