Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.Q1409L
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BRCA1

NM_007294.4:p.Q1409L

Associated Papers

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S15

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

BRCA1 Circos: a visualisation resource for functional analysis of missense variants.

Jhuraney A et al.

Journal of Medical Genetics, 2015

25643705 (PubMed )
Supplement: jmedgenet-2014-102766-s1.pdf

Functional and structural analysis of C-terminal BRCA1 missense variants.

Quiles F et al.

Plos One, 2013

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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."