Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S205fs
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BRCA2

NM_000059.4:p.S205fs

Associated Papers

RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

Liu P et al.

The Journal of Biological Chemistry, 2022

35952757 (PubMed )
Supplement: mmc3.xls › BRCA2

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

Bypass of premature stop codons and generation of functional BRCA2 by exon skipping.

Stauffer S et al.

Journal of Human Genetics, 2020

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA
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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."