Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E1535K
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BRCA1

NM_007294.4:p.E1535K

Associated Papers

Protein-folding chaperones predict structure-function relationships and cancer risk in BRCA1 mutation carriers.

Gracia B et al.

Cell Reports, 2024

38368609 (PubMed )
Supplement: NIHMS1970903-supplement-6.xlsx › Table_S5

Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.

Bassi N et al.

Bmc Cancer, 2023

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

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Li H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

31853058 (PubMed )
Supplement: 41436_2019_729_MOESM2_ESM.xls › Sheet1

External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years.

Mueller CR et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2004

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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."