Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1143F
Back to variants list

BRCA1

NM_007294.4:p.S1143F

Associated Papers

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.

Fierheller CT et al.

Genome Medicine, 2021

34861889 (PubMed )
Supplement: 13073_2021_998_MOESM1_ESM.xlsx › S17

Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.

Reza MN et al.

Scientific Reports, 2021

34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_1.xlsx › Sheet1

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 2._Full_includes_CIP_and_0_star

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

Tram E et al.

Plos One, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."