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BRCA2 c.412_413delinsGC ;(p.C138A)
Variant ID: 13-32899308-TG-GC
NM_000059.3(
BRCA2
):c.412_413delinsGC;(p.C138A)
This variant was identified in 2 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: C138A
PubMed Link:
34356684
Variant Present in the following documents:
Main text
biomolecules-11-01060.pdf
View BVdb publication page
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: BRCA2: C138A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page