Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.G1366Splc
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BRCA1

NM_007294.4:p.G1366Splc

Associated Papers

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

Vreeswijk MP et al.

Human Mutation, 2009

Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals.

De Silva W et al.

Bmc Cancer, 2008

Pre-mRNA splicing aberrations and cancer.

Pettigrew CA et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F et al.

Cancer Genetics and Cytogenetics, 2006

Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.

Chen X et al.

Human Mutation, 2006

A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--> C is a mutation.

Keaton JC et al.

Journal of Human Genetics, 2003

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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."