RAB3 GTPase activating protein subunit 1 (catalytic)

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NCBI Description of 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.

Community Annotation of RAB3GAP1 Add / Edit RAB3GAP1: Annotations

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Figure notes

• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


RAB3GAP1 is highly significantly mutated in
RAB3GAP1 is significantly mutated in
RAB3GAP1 is near significance in
17 patients (6%)

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Data details

Mutation list for RAB3GAP1