Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1173N
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BRCA1

NM_007294.4:p.S1173N

Associated Papers

MTOR-mutated eosinophilic renal cell carcinomas with loss of chromosome 1 and high metastatic potential: further expanding the spectrum of TSC/mTOR pathway mutated renal tumors.

Kwon JW et al.

Virchows Archiv : an International Journal of Pathology, 2025

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S15

Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Dines JN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 1._Used_in_analysis
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."