Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.V39G

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
1 paper
NM_001323289.2
p.V39G
c.116T>G
Surrounding Variants
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
2 papers
NM_001323289.2
p.I41F
c.121A>T
1 paper
NM_001323289.2
p.K42insFs
c.125dupA
36 papers
NM_001323289.2
p.K42R
c.125A>G
3 papers
NM_001323289.2
p.H36R
c.107A>G
1 paper
NM_001323289.2
p.H36Y
c.106C>T
1 paper
NM_001323289.2
p.K43R
c.128A>G
6 papers
NM_001323289.2
p.T35I
c.104C>T
3 papers
NM_001323289.2
p.T35P
c.103A>C
1 paper
NM_001323289.2
p.T35A
c.103A>G
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