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BRCA1 c.3750G>A ;(p.E1250=)
Variant ID: 17-41243798-C-T
NM_007294.3(
BRCA1
):c.3750G>A;(p.E1250=)
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:
Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.
Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022
Variant appearance in text: rs145903082
PubMed Link:
36561320
Variant Present in the following documents:
Table2.xlsx, sheet 2
View BVdb publication page
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Genome Medicine
Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A
Publication Date: 2021-11-09
Variant appearance in text: BRCA1: 3750G>A; Glu1250=
PubMed Link:
34749799
Variant Present in the following documents:
13073_2021_976_MOESM1_ESM.pdf
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: BRCA1: E1250E
PubMed Link:
33691754
Variant Present in the following documents:
13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page