Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K42R

CDKL5

651 papers

RefSeq Summary

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm synd...

Pfam Domains

Pkinaseaa 13–297UCSCProtein kinase domain

Gene Aliases

HGNC Name

cyclin dependent kinase like 5

HGNC Previous Symbol

STK9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
36 papers
NM_001323289.2
p.K42R
c.125A>G
Surrounding Variants
1 paper
NM_001323289.2
p.K42insFs
c.125dupA
1 paper
NM_001323289.2
p.K43R
c.128A>G
2 papers
NM_001323289.2
p.I41F
c.121A>T
1 paper
NM_001323289.2
p.A40E
c.119C>A
1 paper
NM_001323289.2
p.A40G
c.119C>G
43 papers
NM_001323289.2
p.A40V
c.119C>T
1 paper
NM_001323289.2
p.F44Fs
c.131delinsGAFs
5 papers
NM_001323289.2
p.K45_D46ins6
c.133_137ins18
1 paper
NM_001323289.2
p.K45R
c.134A>G
1 paper
NM_001323289.2
p.K45M
c.134A>T
1 paper
NM_001323289.2
p.V39G
c.116T>G
1 paper
NM_001323289.2
p.K45N
c.135G>C
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