Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K222N
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BRCA1

NM_007294.4:p.K222N

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

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

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.

Sahm F et al.

Genes, Chromosomes & Cancer, 2016

Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

Laraqui A et al.

International Journal of Medical Sciences, 2013

BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries.

Cherbal F et al.

Breast Disease, 2012

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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."