rs12997003

This is a intron variant variant in the NCK2 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

platelet component distribution width

Allele T
OR 0.02
p 3.0e-25
N 394,642
Large GWAS
European

About NCK2

This gene encodes a member of the NCK family of adaptor proteins. The protein contains three SH3 domains and one SH2 domain. The protein has no known catalytic function but has been shown to bind and recruit various proteins involved in the regulation of receptor protein tyrosine kinases. It is through these regulatory activities that this protein is believed to be involved in cytoskeletal reorganization. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

View all NCK2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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