C2ORF83
Chr 2solute carrier family 19 member 4, pseudogene
Also known as: C2orf83
The C2ORF83 protein is predicted to function as a vitamin transmembrane transporter, facilitating the transport of vitamins across cellular membranes. Currently, no specific diseases have been definitively associated with mutations in this gene, and the inheritance pattern remains to be established. The gene appears to be relatively tolerant to loss-of-function variation based on constraint metrics.
Some data sources returned errors (1)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/C2ORF83?content-type=application/json&expand=1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
29 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 23 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 5 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 29 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C2ORF83 · 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 →No open access results found
External Resources
Links to major genomics databases and tools