FARP1
Chr 13FERM, ARH/RhoGEF and pleckstrin domain protein 1
Also known as: CDEP, FARP1-IT1, GLCC1, PLEKHC2, PPP1R75
The protein functions as a guanine nucleotide exchange factor for RAC1 and promotes dendritic growth, spine formation, and synapse development in neurons. Mutations cause autosomal recessive epilepsy with intellectual disability and behavioral abnormalities, typically presenting in early childhood. The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FARP1 · 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