Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.V3078I
Back to variants list

BRCA2

NM_000059.4:p.V3078I

Associated Papers

Aneuploidy and a deregulated DNA damage response suggest haploinsufficiency in breast tissues of BRCA2 mutation carriers.

Karaayvaz-Yildirim M et al.

Science Advances, 2020

32064343 (PubMed )
Supplement: aay2611_SM.pdf

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

Biswas K et al.

Human Molecular Genetics, 2012

BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.

Salazar R et al.

Cancer Letters, 2006

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."