Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S198Splc
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BRCA1

NM_007294.4:p.S198Splc

Associated Papers

Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.

Llinares-Burguet I et al.

The Journal of Pathology, 2026

41230741 (PubMed )
Supplement: PATH-268-150-s001.zip › path6497-sup-0003-TableS2.docx

Pre-mRNA splicing aberrations and cancer.

Pettigrew CA et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism.

Scholl T et al.

Journal of Medical Genetics, 1999

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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."