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BRCA2 c.1819_1820delinsGC ;(p.K607A)
Variant ID: 13-32907434-AA-GC
NM_000059.3(
BRCA2
):c.1819_1820delinsGC;(p.K607A)
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:
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: FANCD1: K607A
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Shaping the BRCAness mutational landscape by alternative double-strand break repair, replication stress and mitotic aberrancies.
Nucleic Acids Research
Stok, Colin C; Kok, Yannick P YP; van den Tempel, Nathalie N; van Vugt, Marcel A T M MATM
Publication Date: 2021-05-07
Variant appearance in text: BRCA2: K607A
PubMed Link:
33744950
Variant Present in the following documents:
Main text
View BVdb publication page