rs140790437
This variant is located in the RAB14 gene.
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout RAB14
RAB14 belongs to the large RAB family of low molecular mass GTPases that are involved in intracellular membrane trafficking. These proteins act as molecular switches that flip between an inactive GDP-bound state and an active GTP-bound state in which they recruit downstream effector proteins onto membranes (Junutula et al., 2004 [PubMed 15004230]).[supplied by OMIM, Mar 2009]
View all RAB14 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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