KCNRG

Chr 13

potassium channel regulator

Also known as: DLTET

NCBI Gene: 283518ENSG00000198553UniProt: Q8N5I3

This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.63
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.63LOEUF
pLI 0.000
Z-score 0.27
OE 0.90 (0.51–1.63)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.21Z-score
OE missense 0.95 (0.83–1.10)
139 obs / 146.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.51–1.63)
0≤0.351.4
Missense OE?0.95 (0.83–1.10)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 7 / 7.8Missense obs/exp: 139 / 146.0Syn Z: 1.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KCNRG · 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 →

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