P3R3URF

Chr 1

PIK3R3 upstream open reading frame

NCBI Gene: 110117498ENSG00000250719UniProt: A0A087WWA1

Predicted to be involved in cytokine-mediated signaling pathway. [provided by Alliance of Genome Resources, Jul 2025]

5
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— P3R3URF
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 2 VUS of 5 total submissions
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
VUS2
Likely Benign2
1
Likely Pathogenic
2
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
1
0
1
VUS
0
0
2
0
2
Likely Benign
0
0
1
1
2
Benign
0
0
0
0
0
Total00415

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

P3R3URF · 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 P3R3URF

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