CRMP1
Chr 4collapsin response mediator protein 1
Also known as: CRMP-1, DPYSL1, DRP-1, DRP1, ULIP-3
The protein mediates semaphorin signaling that controls axon guidance during neural development by promoting cytoskeletal remodeling and growth cone collapse. Mutations cause autosomal dominant developmental delay, intellectual disability, and seizures with onset in infancy or early childhood. The gene is highly constrained against loss-of-function variants (pLI = 0.99, LOEUF = 0.28), reflecting its essential role in nervous system development.
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
227 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 | 85 | 0 | 85 |
Likely Pathogenic | 1 | 0 | 4 | 0 | 5 |
VUS | 1 | 104 | 8 | 0 | 113 |
Likely Benign | 0 | 0 | 0 | 6 | 6 |
Benign | 0 | 1 | 2 | 6 | 9 |
Conflicting | — | 1 | |||
| Total | 2 | 105 | 99 | 12 | 219 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CRMP1 · 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