rs753077071
This variant is located in the RABGEF1 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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]
View all RABGEF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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