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BRCA2 c.1839A>G ;(p.L613=)
Variant ID: 13-32907454-A-G
NM_000059.3(
BRCA2
):c.1839A>G;(p.L613=)
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:
Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.
Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04
Variant appearance in text: BRCA2: 1839A>G; L613L; rs1057520988
PubMed Link:
35218119
Variant Present in the following documents:
CAS-113-1451-s002.xlsx, sheet 1
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: L613L
PubMed Link:
33691754
Variant Present in the following documents:
13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page
Modelling mutational landscapes of human cancers in vitro.
Scientific Reports
Olivier, Magali M; Weninger, Annette A; Ardin, Maude M; Huskova, Hana H; Castells, Xavier X; Vallée, Maxime P MP; McKay, James J; Nedelko, Tatiana T; Muehlbauer, Karl-Rudolf KR; Marusawa, Hiroyuki H; Alexander, John J; Hazelwood, Lee L; Byrnes, Graham G; Hollstein, Monica M; Zavadil, Jiri J
Publication Date: 2014-03-27
Variant appearance in text: BRCA2: L613L
PubMed Link:
24670820
Variant Present in the following documents:
srep04482-s4.xls, sheet 18
View BVdb publication page