MARK1
Chr 1microtubule affinity regulating kinase 1
Also known as: MARK, Par-1c, Par1c
The protein functions as a serine/threonine kinase that regulates microtubule dynamics and cell polarity by phosphorylating microtubule-associated proteins including tau, MAP2, and DCX, and plays a role in neuronal migration and Wnt signaling. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly. The gene shows high constraint against loss-of-function variants (LOEUF 0.363), indicating intolerance to complete protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
134 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 | 27 | 0 | 27 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 72 | 7 | 0 | 79 |
Likely Benign | 0 | 1 | 0 | 5 | 6 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 0 | 74 | 36 | 5 | 115 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MARK1 · 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