POLR2C

Chr 16

RNA polymerase II subunit C

Also known as: RPB3, RPB31, hRPB33, hsRPB3

NCBI Gene: 5432ENSG00000102978UniProt: P19387

This gene encodes the third largest subunit of RNA polymerase II, which synthesizes messenger RNA and many functional non-coding RNAs from DNA templates. Mutations in POLR2C have not been definitively associated with human disease, though the protein is essential for RNA polymerase II function as a core component that forms a heterodimer with POLR2J.

Summary from RefSeq, UniProt
0
Active trials
5
Pubs (1 yr)
25
P/LP submissions
8%
P/LP missense
0.74
LOEUF
—
Mechanism
Clinical Summary— POLR2C
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
24 unique Pathogenic / Likely Pathogenic· 29 VUS of 63 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.74LOEUF
pLI 0.001
Z-score 2.40
OE 0.41 (0.24–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.86Z-score
OE missense 0.59 (0.50–0.70)
97 obs / 164.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.24–0.74)
0≤0.351.4
Missense OE0.59 (0.50–0.70)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 8 / 19.4Missense obs/exp: 97 / 164.3Syn Z: 1.14

ClinVar Variant Classifications

63 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic5
VUS29
Likely Benign1
19
Pathogenic
5
Likely Pathogenic
29
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
2
3
0
5
VUS
0
21
8
0
29
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total02330154

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

View in ClinVar →

Protein Context — Lollipop Plot

POLR2C · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients