TRAPPC2L
Chr 16ARtrafficking protein particle complex subunit 2L
Also known as: HSPC176, PERRB
This gene encodes a protein that interacts with the TRAPP complex to mediate vesicular transport from the endoplasmic reticulum to Golgi apparatus. Mutations cause progressive early-onset encephalopathy with episodic rhabdomyolysis, inherited in an autosomal recessive pattern. The gene is not highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
272 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 | 9 | 4 | 63 | 0 | 76 |
Likely Pathogenic | 4 | 5 | 7 | 0 | 16 |
VUS | 0 | 60 | 24 | 1 | 85 |
Likely Benign | 0 | 4 | 20 | 33 | 57 |
Benign | 0 | 4 | 5 | 2 | 11 |
Conflicting | — | 9 | |||
| Total | 13 | 77 | 119 | 36 | 254 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRAPPC2L · 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