Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1257*
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BRCA1

NM_007294.4:p.E1257*

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_BRCA1

Prevalence of Tissue BRCA Gene Mutation in Ovarian, Fallopian Tube, and Primary Peritoneal Cancers: A Multi-Institutional Study.

Lertkhachonsuk AA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Mittempergher L et al.

Plos One, 2020

32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_
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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."