PNCK

Chr X

pregnancy up-regulated nonubiquitous CaM kinase

Also known as: BSTK3, CaMK1b

NCBI Gene: 139728ENSG00000130822UniProt: Q6P2M8

PNCK is a member of the calcium/calmodulin-dependent protein kinase family of protein serine/threonine kinases (see CAMK1; MIM 604998) (Gardner et al., 2000 [PubMed 10673339]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.10
LOEUF
Multiple*
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?
1.10LOEUF
pLI 0.000
Z-score 1.29
OE 0.65 (0.40–1.10)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.51Z-score
OE missense 0.69 (0.60–0.80)
132 obs / 190.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.40–1.10)
0≤0.351.4
Missense OE?0.69 (0.60–0.80)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 10 / 15.5Missense obs/exp: 132 / 190.6Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PNCK · 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