REV3L

Chr 6

REV3 like, DNA directed polymerase zeta catalytic subunit

Also known as: POLZ, REV3

NCBI Gene: 5980ENSG00000009413UniProt: O60673

The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]

ResearchGenerating clinical summary…

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.12
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.12LOEUF
pLI 1.000
Z-score 10.03
OE 0.07 (0.04–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.47Z-score
OE missense 0.83 (0.79–0.86)
1315 obs / 1592.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.07 (0.04–0.12)
0≤0.351.4
Missense OE?0.83 (0.79–0.86)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 9 / 134.5Missense obs/exp: 1315 / 1592.1Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

REV3L · 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