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BRCA2 c.4225T>C ;(p.L1409=)
Variant ID: 13-32912717-T-C
NM_000059.3(
BRCA2
):c.4225T>C;(p.L1409=)
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: BRCA2: L1409L
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10
Variant appearance in text: BRCA2: L1409L
PubMed Link:
33691754
Variant Present in the following documents:
13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page