rs761608003

This variant is located in the DOCK6 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; DOCK6-related disorder

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About DOCK6

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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