rs200397968

This variant is located in the ARHGAP31 gene.

ClinVar annotation

Likely Benign★★★
10 submitters2 publications

not specified; not provided; Adams-Oliver syndrome 1; Clear cell carcinoma of kidney; Gastric cancer; Malignant tumor of esophagus; Lung cancer

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About ARHGAP31

This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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