SIK1
Chr 21ADsalt inducible kinase 1
Also known as: DEE30, MSK, SIK, SIK-1, SIK1B, SNF1LK
The protein is a serine/threonine kinase containing a ubiquitin-associated domain and functions as a member of the AMPK subfamily involved in cellular signal transduction pathways. Mutations cause developmental and epileptic encephalopathy 30, which follows an autosomal dominant inheritance pattern. The high pLI score (0.94) and low LOEUF score (0.34) indicate the gene is highly intolerant to loss-of-function variants, suggesting haploinsufficiency as the likely mechanism of pathogenicity.
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
400 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 | 16 | 0 | 16 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 10 | 182 | 21 | 2 | 215 |
Likely Benign | 0 | 2 | 56 | 84 | 142 |
Benign | 0 | 0 | 10 | 0 | 10 |
Conflicting | — | 6 | |||
| Total | 12 | 184 | 104 | 86 | 392 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SIK1 · 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