ARV1

Chr 1AR

ARV1 fatty acid homeostasis modulator

Also known as: DEE38, EIEE38

NCBI Gene: 64801ENSG00000173409UniProt: Q9H2C2OMIM: 611647

this gene encodes a transmembrane protein that contains a conserved zinc ribbon motif at the N- terminus. A similar protein in mouse is thought to function in fatty acid homeostasis. Mutations in this gene are associated with early infantile epileptic encephalopathy 38. [provided by RefSeq, Nov 2016]

OMIMResearchGenerating clinical summary…
ARLOEUF 1.251 OMIM phenotype
Clinical Summary— ARV1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.89
OE 0.74 (0.46–1.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.19Z-score
OE missense 0.96 (0.83–1.10)
139 obs / 145.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.74 (0.46–1.25)
0≤0.351.4
Missense OE?0.96 (0.83–1.10)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 10 / 13.5Missense obs/exp: 139 / 145.5Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ARV1 · 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.

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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