Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E139G

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.E139G
c.416A>G
Surrounding Variants
1 paper
NM_001323289.2
p.E139K
c.415G>A
2 papers
NM_001323289.2
p.E139Q
c.415G>C
2 papers
NM_001323289.2
p.N140insFs
c.419dupA
2 papers
NM_001323289.2
p.N140insFs
c.418_419insG
1 paper
NM_001323289.2
p.N140fs
c.418_419fs
1 paper
NM_001323289.2
p.N140fs
c.418_419fs
1 paper
NM_001323289.2
p.N140S
c.419A>G
2 papers
NM_001323289.2
p.P138L
c.413C>T
1 paper
NM_001323289.2
p.P138_N140del0
c.414_419del6
1 paper
NM_001323289.2
p.P138insFs
c.412_413insT
1 paper
NM_001323289.2
p.P138A
c.412C>G
1 paper
NM_001323289.2
p.P138fs
c.412_413fs
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