EXO5
Chr 1exonuclease 5
Also known as: C1orf176, DEM1, Exo V, hExo5
The protein is a single-stranded DNA exonuclease that slides along DNA before cutting it and localizes to nuclear repair sites after DNA damage, functioning in DNA repair following ultraviolet irradiation and interstrand cross-link damage. Mutations cause autosomal recessive EXO5-related disorder, characterized by developmental delay, intellectual disability, and microcephaly with onset in infancy or early childhood. The gene shows low constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
92 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 56 | 7 | 0 | 63 |
Likely Benign | 1 | 2 | 0 | 2 | 5 |
Benign | 2 | 5 | 3 | 3 | 13 |
| Total | 3 | 63 | 19 | 5 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
EXO5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools