Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R1204I
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BRCA1

NM_007294.4:p.R1204I

Associated Papers

Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.

Guo Q et al.

Journal of Human Genetics, 2023

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s001.xlsx › Indian

Germline Pathogenic Variants in 7636 Japanese Patients With Prostate Cancer and 12 366 Controls.

Momozawa Y et al.

Journal of the National Cancer Institute, 2020

31214711 (PubMed )
Supplement: djz124_supplementary_data.zip › djz124-Suppl_Data › Supplementary_Tables_5_and_6_060619.xlsx › Supplementary_Table_6

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

35693198 (PubMed )
Supplement: pby010_supplementarytables1_2_v2.xlsx › Sheet1

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

Valarmathi MT et al.

Human Mutation, 2004

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