Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.A102S
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BRCA1

NM_007294.4:p.A102S

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s005.xlsx › Sheet1

Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays.

Caleca L et al.

Frontiers in Oncology, 2023

37168384 (PubMed )
Supplement: Table_1.xlsx › ST3_Discordant_Variants
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