rs1254157111

This variant is located in the DOCK7 gene.

▶

ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Developmental and epileptic encephalopathy, 23

View on ClinVar →

About DOCK7

The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

View all DOCK7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…