PDCD6-AHRR

Chr 5

PDCD6-AHRR readthrough (NMD candidate)

NCBI Gene: 116412618ENSG00000288622

Predicted to enable calcium ion binding activity and calcium-dependent protein binding activity. Predicted to be located in ER to Golgi transport vesicle membrane. [provided by Alliance of Genome Resources, Jul 2025]

254
ClinVar variants
56
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PDCD6-AHRR
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 169 VUS of 254 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

254 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic56
VUS169
Likely Benign22
Benign7
56
Pathogenic
169
VUS
22
Likely Benign
7
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
56
0
56
Likely Pathogenic
0
0
0
0
0
VUS
1
153
15
0
169
Likely Benign
0
10
5
7
22
Benign
0
0
7
0
7
Total1163837254

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.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for PDCD6-AHRR

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools