RAB44

Chr 6

RAB44, member RAS oncogene family

Also known as: RASD3, RASL13, dJ431A14.3

NCBI Gene: 401258ENSG00000255587UniProt: Q7Z6P3

Enables G protein activity. Involved in mast cell degranulation. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.03
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.03LOEUF
pLI 0.002
Z-score 1.50
OE 0.52 (0.28–1.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.02Z-score
OE missense 0.76 (0.65–0.89)
111 obs / 145.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.28–1.03)
0≤0.351.4
Missense OE?0.76 (0.65–0.89)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 6 / 11.5Missense obs/exp: 111 / 145.6Syn Z: 1.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RAB44 · 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