MINDY3
Chr 10MINDY lysine 48 deubiquitinase 3
Also known as: C10orf97, CARP, DERP5, FAM188A, MST126, MSTP126, my042
The protein functions as a hydrolase that removes Lys-48-linked ubiquitin from proteins and contains a caspase-associated recruitment domain that may function in apoptosis. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay. The gene shows autosomal recessive inheritance and is moderately constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
108 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 | 15 | 0 | 15 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 58 | 7 | 0 | 65 |
Likely Benign | 0 | 2 | 3 | 0 | 5 |
Benign | 0 | 0 | 5 | 1 | 6 |
| Total | 0 | 60 | 30 | 1 | 91 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MINDY3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →No open access results found
External Resources
Links to major genomics databases and tools