LRRFIP1
Chr 2LRR binding FLII interacting protein 1
Also known as: FLAP-1, FLAP1, FLIIAP1, GCF-2, GCF2, HUFI-1, TRIP
The LRRFIP1 protein functions as a transcriptional repressor that binds to GC-rich DNA sequences and regulates expression of genes including TNF, EGFR, and PDGFA, while also positively regulating Toll-like receptor signaling pathways. Mutations in LRRFIP1 cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy, typically presenting in early childhood. The gene shows tolerance to loss-of-function variants (pLI 0.02, LOEUF 0.68), consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
267 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 | 77 | 0 | 77 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 131 | 12 | 0 | 143 |
Likely Benign | 0 | 4 | 0 | 4 | 8 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 135 | 90 | 5 | 230 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRRFIP1 · 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