Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D185H
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BRCA1

NM_007294.4:p.D185H

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

Heterozygous germline mutations in NBS1 among Korean patients with high-risk breast cancer negative for BRCA1/2 mutation.

Kim H et al.

Familial Cancer, 2015

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.

Desjardins S et al.

Bmc Cancer, 2009

Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia.

Mosor M et al.

European Journal of Cancer (oxford, England : 1990), 2008

Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene.

Ziólkowska I et al.

Cancer Science, 2007

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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."