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BRCA2 c.1640C>G ;(p.S547*)
Variant ID: 13-32907255-C-G
NM_000059.3(
BRCA2
):c.1640C>G;(p.S547*)
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:
Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.
Bmc Cancer
Huang, Chi-Cheng CC; Tsai, Yi-Fang YF; Liu, Chun-Yu CY; Chao, Ta-Chung TC; Lien, Pei-Ju PJ; Lin, Yen-Shu YS; Feng, Chin-Jung CJ; Chiu, Jen-Hwey JH; Hsu, Chih-Yi CY; Tseng, Ling-Ming LM
Publication Date: 2021-02-25
Variant appearance in text: BRCA2: S547*
PubMed Link:
33632156
Variant Present in the following documents:
Main text
12885_2021_Article_7931.pdf
View BVdb publication page
Comprehensive molecular profiling broadens treatment options for breast cancer patients.
Cancer Medicine
Kawaji, Hitomi H; Kubo, Makoto M; Yamashita, Nami N; Yamamoto, Hidetaka H; Kai, Masaya M; Kajihara, Atsuko A; Yamada, Mai M; Kurata, Kanako K; Kaneshiro, Kazuhisa K; Harada, Yurina Y; Hayashi, Saori S; Shimazaki, Akiko A; Mori, Hitomi H; Akiyoshi, Sayuri S; Oki, Eiji E; Oda, Yoshinao Y; Baba, Eishi E; Mori, Masaki M; Nakamura, Masafumi M
Publication Date: 2021-01
Variant appearance in text: BRCA2: S547*
PubMed Link:
33274848
Variant Present in the following documents:
Main text
CAM4-10-529.pdf
View BVdb publication page
Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.
Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020
Variant appearance in text: BRCA2: 1640C>G; Ser547X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page