APBB1IP
Chr 10amyloid beta precursor protein binding family B member 1 interacting protein
Also known as: INAG1, PREL1, RARP1, RIAM
The APBB1IP protein mediates signal transduction from Ras activation to actin cytoskeletal remodeling and plays a role in Rap1-induced cell adhesion. This gene is highly constrained against loss-of-function mutations (pLI 0.85, LOEUF 0.37), suggesting that pathogenic variants would likely cause significant developmental or neurological phenotypes. However, no established human disease phenotype has been definitively linked to APBB1IP mutations in current medical literature.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
123 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 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 85 | 2 | 0 | 87 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 0 | 3 | 1 | 1 | 5 |
| Total | 0 | 92 | 13 | 3 | 108 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
APBB1IP · 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