ARPC4-TTLL3
Chr 3ARPC4-TTLL3 readthrough
This naturally occurring read-through transcript produces a fusion protein combining sequences from ARPC4 (actin-related protein 2/3 complex subunit 4, involved in actin nucleation and cytoskeletal regulation) and TTLL3 (tubulin tyrosine ligase-like protein 3, involved in microtubule post-translational modifications). The gene shows extreme constraint against loss-of-function variation, but no definitive disease associations have been established for mutations in this read-through transcript.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
200 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 | 20 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 151 | 15 | 0 | 167 |
Likely Benign | 0 | 3 | 3 | 2 | 8 |
Benign | 0 | 0 | 1 | 1 | 2 |
Conflicting | — | 1 | |||
| Total | 1 | 154 | 39 | 3 | 198 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ARPC4-TTLL3 · 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 →No open access results found
External Resources
Links to major genomics databases and tools