Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.E49K
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BRCA2

NM_000059.4:p.E49K

Associated Papers

Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection.

Kolinjivadi AM et al.

Human Molecular Genetics, 2023

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.

Fierheller CT et al.

Genes, 2023

36833203 (PubMed )
Supplement: genes-14-00277-s001.zip › 09.11.22_Supplementary_tables_v9.xlsx › 5

Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants.

Prakash R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36099300 (PubMed )
Supplement: pnas.2202727119.sapp.pdf

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1
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