rs2268177

This variant is located in the CDC42 gene.

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GWAS Catalog Trait Associations (1)

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

cervical cancer

Koel M et al. “GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer.” Human Molecular Genetics 32(12):2103-2116 (2023)
Allele T
OR 1.12
p 4.0e-8
N 409,197
Large GWAS
European

About CDC42

The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

View all CDC42 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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