PDCD6-AHRR
Chr 5PDCD6-AHRR readthrough (NMD candidate)
The PDCD6-AHRR protein is predicted to bind calcium ions and participate in calcium-dependent protein interactions, with predicted localization to ER-to-Golgi transport vesicle membranes. Based on the limited functional annotation available, no well-established disease associations or inheritance patterns have been documented for this gene.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
283 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 | 57 | 0 | 57 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 155 | 15 | 0 | 171 |
Likely Benign | 0 | 10 | 5 | 7 | 22 |
Benign | 0 | 0 | 7 | 0 | 7 |
| Total | 1 | 165 | 84 | 7 | 257 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDCD6-AHRR · 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