CRKL
Chr 22CRK like proto-oncogene, adaptor protein
The protein is an adaptor kinase containing SH2 and SH3 domains that activates RAS and JUN kinase signaling pathways and mediates intracellular signal transduction. Mutations cause autosomal dominant developmental disorders including intellectual disability, seizures, and craniofacial abnormalities, often as part of 22q11.2 deletion syndrome. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.64), suggesting some tolerance to haploinsufficiency.
No known disease relationship
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
100 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 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 3 | 21 | 16 | 0 | 40 |
Likely Benign | 0 | 0 | 3 | 15 | 18 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 3 | 21 | 59 | 15 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRKL · 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