Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E230Q
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BRCA1

NM_007294.4:p.E230Q

Associated Papers

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L et al.

Hereditary Cancer in Clinical Practice, 2019

Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.

Tammaro C et al.

International Journal of Molecular Sciences, 2014

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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."