RABGEF1

Chr 7

RAB guanine nucleotide exchange factor 1

Also known as: RABEX5, RAP1, rabex-5

NCBI Gene: 27342ENSG00000154710UniProt: Q9UJ41OMIM: 609700

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]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.65
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.65LOEUF
pLI 0.001
Z-score 2.90
OE 0.39 (0.24–0.65)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.47Z-score
OE missense 0.75 (0.67–0.84)
210 obs / 279.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.24–0.65)
0≤0.351.4
Missense OE?0.75 (0.67–0.84)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 10 / 25.9Missense obs/exp: 210 / 279.0Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RABGEF1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients