ARFGEF3

Chr 6

ARFGEF family member 3

Also known as: A7322, BIG3, C6orf92, KIAA1244, PPP1R33, dJ171N11.1

NCBI Gene: 57221ENSG00000112379UniProt: Q5TH69

Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Predicted to be located in transport vesicle membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.20
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.20LOEUF
pLI 1.000
Z-score 7.94
OE 0.13 (0.08–0.20)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.50Z-score
OE missense 0.80 (0.76–0.84)
984 obs / 1230.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.13 (0.08–0.20)
0≤0.351.4
Missense OE?0.80 (0.76–0.84)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 12 / 95.9Missense obs/exp: 984 / 1230.9Syn Z: 1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARFGEF3 · 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