RABL6

Chr 9

RAB, member RAS oncogene family like 6

Also known as: C9orf86, PARF, RBEL1, pp8875

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 SummaryRABL6
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.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.24LOEUF
pLI 0.998
Z-score 4.72
OE 0.09 (0.040.24)
Highly constrained

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

Missense Constraint
-0.12Z-score
OE missense 1.02 (0.941.09)
473 obs / 465.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.09 (0.040.24)
00.351.4
Missense OE1.02 (0.941.09)
00.61.4
Synonymous OE1.07
01.21.6
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

0 submitted variants 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

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →