RABGEF1 Back

RAB guanine nucleotide exchange factor (GEF) 1

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NCBI Description of RABGEF1

RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010].

Community Annotation of RABGEF1 Add / Edit RABGEF1: 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).


Legend

RABGEF1 is highly significantly mutated in
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RABGEF1 is significantly mutated in
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RABGEF1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


Mutation list for RABGEF1