Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.E237K
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BRCA1

NM_007294.4:p.E237K

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

A review on the genetic polymorphisms and susceptibility of cancer patients in Bangladesh.

Babu G et al.

Molecular Biology Reports, 2022

Identification of Mutation in Exon11 of BRCA1 Gene in Bangladeshi Patients with Breast Cancer.

Nishat L et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2019

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

Mutational screening of the NR5A1 in azoospermia.

Zare-Abdollahi D et al.

Andrologia, 2015

Mitochondrial DNA variant interactions modify breast cancer risk.

Covarrubias D et al.

Journal of Human Genetics, 2008

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

Blair E et al.

Journal of Medical Genetics, 2001

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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."