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BRCA2 c.3002C>A ;(p.S1001*)
Variant ID: 13-32911494-C-A
NM_000059.3(
BRCA2
):c.3002C>A;(p.S1001*)
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:
Whole-genome analysis of Nigerian patients with breast cancer reveals ethnic-driven somatic evolution and distinct genomic subtypes.
Nature Communications
Ansari-Pour, Naser N; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Sanni, Ayodele A; Ajani, Mustapha M; Reynier, Jean-Baptiste JB; Tapinos, Avraam A; Pitt, Jason J JJ; Dentro, Stefan S; Woodard, Anna A; Rajagopal, Padma Sheila PS; Fitzgerald, Dominic D; Gruber, Andreas J AJ; Odetunde, Abayomi A; Popoola, Abiodun A; Falusi, Adeyinka G AG; Babalola, Chinedum Peace CP; Ogundiran, Temidayo T; Ibrahim, Nasiru N; Barretina, Jordi J; Van Loo, Peter P; Chen, Mengjie M; White, Kevin P KP; Ojengbede, Oladosu O; Obafunwa, John J; Huo, Dezheng D; Wedge, David C DC; Olopade, Olufunmilayo I OI
Publication Date: 2021-11-26
Variant appearance in text: BRCA2: S1001X
PubMed Link:
34836952
Variant Present in the following documents:
41467_2021_27079_MOESM4_ESM.xlsx, sheet 1
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: 3002C>A; Ser1001X
PubMed Link:
32377563
Variant Present in the following documents:
41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Mutational and transcriptomic profiling of acute leukemia of ambiguous lineage reveals obscure but clinically important lineage bias.
Haematologica
Lao, Zhen-Tang ZT; Ding, Ling-Wen LW; An, Omer O; Hattori, Norimichi N; Sun, Qiao-Yang QY; Tan, Kar-Tong KT; Mayakonda, Anand A; Chuan, Wong Gee WG; Madan, Vikas V; Lin, De-Chen DC; Yang, Henry H; Koeffler, H Phillip HP
Publication Date: 2019-05
Variant appearance in text: BRCA2: S1001*
PubMed Link:
30514800
Variant Present in the following documents:
Main text
View BVdb publication page