PRAC2

Chr 17

PRAC2 small nuclear protein

Also known as: C17orf93, HOXB-AS5, HOXB13-AS1, HOXBAS5, NCRNA00253

This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

0
Active trials
24
ClinVar variants
11
Pathogenic / LP
Missense Z
LOEUF
5
Pubs (2 yr)
Clinical SummaryPRAC2
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 11 VUS of 24 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

24 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS11
Benign2
10
Pathogenic
1
Likely Pathogenic
11
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
8
3
0
11
Likely Benign
0
0
0
0
0
Benign
0
2
0
0
2
Total01014024

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

View in ClinVar →

Protein Context — Lollipop Plot

PRAC2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 9 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →