Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E250*
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BRCA1

NM_007294.4:p.E250*

Associated Papers

DNA repair function scores for 2172 variants in the BRCA1 amino-terminus.

Diabate M et al.

Plos Genetics, 2023

37578980 (PubMed )
Supplement: pgen.1010739.s013.xlsx › Sheet1

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM5_ESM.xlsx › Bulk

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

Whole-genome sequencing of matched primary and metastatic hepatocellular carcinomas.

Ouyang L et al.

Bmc Medical Genomics, 2014

24405831 (PubMed )
Supplement: 1755-8794-7-2-S1.xls › S3-mutations
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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."