P3R3URF-PIK3R3

Chr 1

P3R3URF-PIK3R3 readthrough

Also known as: LOC110117498-PIK3R3

This locus represents a naturally occurring readthrough transcript between neighboring genes that encodes a fusion protein sharing sequence identity with the individual gene products. No established disease associations or inheritance patterns have been documented for this readthrough transcript. The clinical significance of this fusion protein remains unknown.

ResearchSummary from RefSeq
Clinical SummaryP3R3URF-PIK3R3
📋
ClinVar Variants
1 unique Pathogenic / Likely Pathogenic· 51 VUS of 66 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

66 submitted variants in ClinVar

Classification Summary

Likely Pathogenic1
VUS51
Likely Benign3
1
Likely Pathogenic
51
VUS
3
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
49
2
0
51
Likely Benign
1
0
1
1
3
Benign
0
0
0
0
0
Total1494155

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

View in ClinVar →

Protein Context — Lollipop Plot

P3R3URF-PIK3R3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found