Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.P1812S
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BRCA1

NM_007294.4:p.P1812S

Associated Papers

Profiling BRCA1-BRCT interactions and their functional relevance at amino acid resolution.

Mangkusaputra V et al.

Nucleic Acids Research, 2025

40966517 (PubMed )
Supplement: gkaf848_supplemental_files.zip › Sup_table_2___ABX_CtIP_complete_count_and_scores.xlsx › BRCT3_ABX

In-Silico Analyses of Nonsynonymous Variants in the BRCA1 Gene.

Arshad S et al.

Biochemical Genetics, 2021

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

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

Gaildrat P et al.

Journal of Medical Genetics, 2010

Identification and in silico analysis of functional SNPs of the BRCA1 gene.

Rajasekaran R et al.

Genomics, 2007

Cancer-related mutations in BRCA1-BRCT cause long-range structural changes in protein-protein binding sites: a molecular dynamics study.

Gough CA et al.

Proteins, 2007

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

Mirkovic N et al.

Cancer Research, 2004

Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

Janezic SA et al.

Human Molecular Genetics, 1999

Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

Carvalho MA et al.

Cancer Biology & Therapy, 0

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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."