Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.S55A
Back to variants list

CHEK2

NM_007194.4:p.S55A

Associated Papers

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

Maxwell KN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25503501 (PubMed )
Supplement: NIHMS641969-supplement-Supplementary_Table_1.xls › Sheet1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."