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BRCA2 c.1889_1890delinsAC ;(p.T630N)
Variant ID: 13-32907504-CA-AC
NM_000059.3(
BRCA2
):c.1889_1890delinsAC;(p.T630N)
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: T630N
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page
Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.
Oncotarget
Terashima, Takeshi T; Umemoto, Kumiko K; Takahashi, Hideaki H; Hosoi, Hiroko H; Takai, Erina E; Kondo, Shunsuke S; Sakamoto, Yasunari Y; Mitsunaga, Shuichi S; Ohno, Izumi I; Hashimoto, Yusuke Y; Sasaki, Mitsuhito M; Ikeda, Masafumi M; Shimada, Kazuaki K; Kaneko, Shuichi S; Yachida, Shinichi S; Sugano, Kokichi K; Okusaka, Takuji T; Morizane, Chigusa C
Publication Date: 2019-10-15
Variant appearance in text: BRCA2: Thr630Asn
PubMed Link:
31666926
Variant Present in the following documents:
Main text
oncotarget-10-5949.pdf
View BVdb publication page