Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1512N
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BRCA1

NM_007294.4:p.S1512N

Associated Papers

Multiplexed assay of variant effect reveals residues of functional importance in the BRCA1 coiled-coil and serine cluster domains.

Nagy G et al.

Plos One, 2023

37917606 (PubMed )
Supplement: pone.0293422.s008.xlsx › Table_S2.Compiled_Results

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s006.xlsx › BRCA2_ethnic_sources_
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