rs201933315

This variant is located in the ARHGAP8 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

About ARHGAP8

This gene encodes a member of the RHOGAP family. GAP (GTPase-activating) family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. GAP proteins alternate between an active (GTP-bound) and inactive (GDP-bound) state based on the GTP:GDP ratio in the cell. This family member is a multidomain protein that functions to promote Erk activation and cell motility. Alternative splicing results in multiple transcript variants. Read-through transcripts from the upstream proline rich 5, renal (PRR5) gene into this gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

View all ARHGAP8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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