POLR2H

Chr 3

RNA polymerase II, I and III subunit H

Also known as: RPABC3, RPB17, RPB8

The three eukaryotic RNA polymerases are complex multisubunit enzymes that play a central role in the transcription of nuclear genes. This gene encodes an essential and highly conserved subunit of RNA polymerase II that is shared by the other two eukaryotic DNA-directed RNA polymerases, I and III. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…
LOEUF 0.62
Clinical SummaryPOLR2H
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.65) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.62LOEUF
pLI 0.653
Z-score 2.23
OE 0.13 (0.040.62)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
1.57Z-score
OE missense 0.52 (0.410.67)
44 obs / 84.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.13 (0.040.62)
00.351.4
Missense OE?0.52 (0.410.67)
00.61.4
Synonymous OE?0.98
01.21.6
LoF obs/exp: 1 / 7.7Missense obs/exp: 44 / 84.6Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

POLR2H · 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

No active trials found for this gene.

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