RRAGD

Chr 6

Ras related GTP binding D

Also known as: HOMG7, RAGD, bA11D8.2.1

NCBI Gene: 58528ENSG00000025039UniProt: Q9NQL2

RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypomagnesemia 7, renal, with or without dilated cardiomyopathy

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
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.820
Z-score 3.03
OE 0.14 (0.06–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.20Z-score
OE missense 0.57 (0.49–0.67)
119 obs / 208.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.14 (0.06–0.44)
0≤0.351.4
Missense OE?0.57 (0.49–0.67)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 2 / 14.4Missense obs/exp: 119 / 208.2Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RRAGD · 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