Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K1636R
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BRCA1

NM_007294.4:p.K1636R

Associated Papers

Genomic Characterization of Preclinical Prostate Cancer Cell Line Models.

Beatson EL et al.

International Journal of Molecular Sciences, 2024

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Thomassen M et al.

Human Mutation, 2022

35979650 (PubMed )
Supplement: HUMU-43-1921-s002.XLSX › Supp_T7

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Loong L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906453 (PubMed )
Supplement: mmc1.xlsx › Sup_Table_3_Variantdata

Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants.

Özkan S et al.

International Journal of Molecular Sciences, 2021

34207612 (PubMed )
Supplement: ijms-22-06226-s001.zip › SUPP_FIGURES_TABLES › SupplementaryTable4.xlsx › supp_table4
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