ARV1

Chr 1AR

ARV1 fatty acid homeostasis modulator

Also known as: DEE38, EIEE38

NCBI Gene: 64801ENSG00000173409UniProt: Q9H2C2OMIM: 611647

The protein mediates endoplasmic reticulum cholesterol and bile acid homeostasis and participates in sterol transport from the ER to plasma membranes. Autosomal recessive mutations cause developmental and epileptic encephalopathy 38, which presents in early infancy with seizures and developmental delays. The gene is highly constrained against loss-of-function variants (pLI near 1), indicating intolerance to protein disruption.

OMIMResearchSummary from RefSeq, OMIM, UniProt
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.
📋
ClinVar Variants
23 unique Pathogenic / Likely Pathogenic· 8 VUS of 33 total submissions
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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 OE0.74 (0.46–1.25)
0≤0.351.4
Missense OE0.96 (0.83–1.10)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 10 / 13.5Missense obs/exp: 139 / 145.5Syn Z: 0.39

ClinVar Variant Classifications

33 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic1
VUS8
Likely Benign1
Conflicting1
22
Pathogenic
1
Likely Pathogenic
8
VUS
1
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
21
0
22
Likely Pathogenic
0
1
0
0
1
VUS
0
1
7
0
8
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Conflicting
—1
Total1328033

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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