RABL6

Chr 9

RAB, member RAS oncogene family like 6

Also known as: C9orf86, PARF, RBEL1, pp8875

NCBI Gene: 55684ENSG00000196642UniProt: Q3YEC7OMIM: 610615

This protein is a small GTPase that regulates cell growth, survival, and proliferation, and may reduce growth inhibitory activity of CDKN2A. The gene is highly constrained against loss-of-function variants (pLI = 1.00, LOEUF = 0.245), but no Mendelian diseases have been definitively associated with RABL6 mutations in current databases.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.24
Clinical Summary— RABL6
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
75 unique Pathogenic / Likely Pathogenic· 105 VUS of 207 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.24LOEUF
pLI 0.998
Z-score 4.72
OE 0.09 (0.04–0.24)
Highly constrained

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

Missense Constraint
-0.12Z-score
OE missense 1.02 (0.94–1.09)
473 obs / 465.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.09 (0.04–0.24)
0≤0.351.4
Missense OE1.02 (0.94–1.09)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 3 / 31.6Missense obs/exp: 473 / 465.9Syn Z: -0.81
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
limitedRABL6-related intellectual developmental disorderOTHERAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.3892th %ile
GOF
0.4973th %ile
LOF
0.70top 10%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

207 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic71
Likely Pathogenic4
VUS105
Likely Benign16
Benign9
Conflicting2
71
Pathogenic
4
Likely Pathogenic
105
VUS
16
Likely Benign
9
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
71
0
71
Likely Pathogenic
0
0
4
0
4
VUS
0
97
7
1
105
Likely Benign
0
12
1
3
16
Benign
0
3
2
4
9
Conflicting
—2
Total0112858207

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

View in ClinVar →

Protein Context — Lollipop Plot

RABL6 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
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