CYFIP1
Chr 15cytoplasmic FMR1 interacting protein 1
Also known as: P140SRA-1, SHYC, SRA-1, SRA1
CYFIP1 encodes a protein that regulates actin cytoskeleton dynamics and inhibits protein translation by forming complexes with EIF4E and FMR1 protein. Deletions encompassing this highly constrained gene (pLI 0.97) cause neurodevelopmental disorders including intellectual disability, autism spectrum disorder, epilepsy, and schizophrenia with autosomal dominant inheritance. The gene plays critical roles in neuronal development, axon outgrowth, and synaptic function.
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
587 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 | 201 | 0 | 201 |
Likely Pathogenic | 0 | 0 | 12 | 0 | 12 |
VUS | 0 | 155 | 83 | 0 | 238 |
Likely Benign | 0 | 4 | 13 | 22 | 39 |
Benign | 0 | 3 | 24 | 10 | 37 |
Conflicting | — | 16 | |||
| Total | 0 | 162 | 333 | 32 | 543 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CYFIP1 · 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