PWAR1

Chr 15

Prader Willi/Angelman region RNA 1

Also known as: D15S227E, PAR-1, PAR1

I cannot write a clinical gene summary for PWAR1 because no information about this gene's protein function, associated diseases, or inheritance pattern has been provided in the data below the gene name. To create an accurate clinical summary, I would need specific information about what the PWAR1 protein does, what phenotypes result from mutations in this gene, and how it is inherited.

Clinical SummaryPWAR1
📋
ClinVar Variants
311 unique Pathogenic / Likely Pathogenic· 4 VUS of 315 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

315 submitted variants in ClinVar

Classification Summary

Pathogenic301
Likely Pathogenic10
VUS4
301
Pathogenic
10
Likely Pathogenic
4
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
301
Likely Pathogenic
10
VUS
4
Likely Benign
0
Benign
0
Total315

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PWAR1 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found