Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S309fs
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BRCA2

NM_000059.4:p.S309fs

Associated Papers

Prevalence of Novel and Recurrent Pathogenic Variants in BRCA Genes in a Cohort of Iranian Hereditary Breast Cancer Patients.

Sarmadi A et al.

Advanced Biomedical Research, 2025

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s001.xlsx › Indian

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

Mutation of SPINOPHILIN (PPP1R9B) found in human tumors promotes the tumorigenic and stemness properties of cells.

Verdugo-Sivianes EM et al.

Theranostics, 2021

33537097 (PubMed )
Supplement: thnov11p3452s1.pdf

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.

Laitman Y et al.

Human Mutation, 2019

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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."