STK38L
Chr 12serine/threonine kinase 38 like
Also known as: NDR2
The protein is a serine/threonine kinase that regulates structural processes in differentiating and mature neuronal cells and negatively regulates autophagy through protein phosphorylation pathways. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and neurological features. The gene shows autosomal recessive inheritance and is highly constrained against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
104 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 | 33 | 0 | 33 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 31 | 12 | 0 | 43 |
Likely Benign | 0 | 0 | 7 | 1 | 8 |
Benign | 0 | 0 | 2 | 1 | 3 |
Conflicting | — | 2 | |||
| Total | 0 | 31 | 55 | 2 | 90 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STK38L · 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 →External Resources
Links to major genomics databases and tools