Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.D2317H
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BRCA2

NM_000059.4:p.D2317H

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA2

Saturation genome editing of 11 codons and exon 13 of BRCA2 coupled with chemotherapeutic drug response accurately determines pathogenicity of variants.

Sahu S et al.

Plos Genetics, 2023

37713444 (PubMed )
Supplement: pgen.1010940.s008.xlsx › Exon13

Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Jiang L et al.

Plos Genetics, 2016

27093186 (PubMed )
Supplement: pgen.1005895.s015.xlsx › Sheet1
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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."