Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.T249I
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BRCA1

NM_007294.4:p.T249I

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

A recessive variant of XRCC4 predisposes to non- BRCA1/2 breast cancer in chinese women and impairs the DNA damage response via dysregulated nuclear localization.

He M et al.

Oncotarget, 2014

25360583 (PubMed )
Supplement: oncotarget-05-12218-s001.pdf
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