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BARD1 c.802G>A ;(p.E268K)
Variant ID: 2-215645796-C-T
NM_000465.2(
BARD1
):c.802G>A;(p.E268K)
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:
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: BARD1: 802G>A; E268K
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page
Dualistic Role of BARD1 in Cancer.
Genes
Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M
Publication Date: 2017-12-08
Variant appearance in text: BARD1: E268K
PubMed Link:
29292755
Variant Present in the following documents:
Main text
genes-08-00375.pdf
View BVdb publication page
Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.
Nature Genetics
Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J
Publication Date: 2015-05
Variant appearance in text: BARD1: E268K
PubMed Link:
25822088
Variant Present in the following documents:
NIHMS62359-supplement-Table3.xlsx, sheet 2
View BVdb publication page