Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.C27S
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BRCA1

NM_007294.4:p.C27S

Associated Papers

Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.

So MK et al.

Diagnostics (basel, Switzerland), 2024

39767183 (PubMed )
Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1

AcornHRD: an HRD algorithm highly associated with anthracycline-based neoadjuvant chemotherapy in breast cancer in China.

Pan JN et al.

European Journal of Medical Research, 2024

39014466 (PubMed )
Supplement: 40001_2024_1936_MOESM1_ESM.xlsx › Supplementary_Table4

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

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-2.xlsx › Sheet1
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