rs587777155

This is a variant in the RAB3GAP1 gene that changes a glutamate to an valine.

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ClinVar annotation

Pathogenic

2 submitters2 publications

Warburg micro syndrome 1 (WARBM1)

About RAB3GAP1

This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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