CAMKK1

Chr 17

calcium/calmodulin dependent protein kinase kinase 1

Also known as: CAMKKA

The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.63
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.000
Z-score 3.06
OE 0.38 (0.240.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.34Z-score
OE missense 0.79 (0.710.88)
254 obs / 321.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.240.63)
00.351.4
Missense OE?0.79 (0.710.88)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 11 / 28.7Missense obs/exp: 254 / 321.6Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CAMKK1 · 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.

Search ClinicalTrials.gov →