Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E181A

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
4 papers
NM_001323289.2
p.E181A
c.542A>C
Surrounding Variants
2 papers
NM_001323289.2
p.E181K
c.541G>A
1 paper
NM_001323289.2
p.P180_E181insFs
c.540_543dup4
24 papers
NM_001323289.2
p.P180L
c.539C>T
8 papers
NM_001323289.2
p.L182P
c.545T>C
1 paper
NM_001323289.2
p.S179_P180insFs
c.537_538insT
3 papers
NM_001323289.2
p.S179F
c.536C>T
1 paper
NM_001323289.2
p.L183*
c.548T>A
1 paper
NM_001323289.2
p.L183*
c.548T>G
2 papers
NM_001323289.2
p.L183insFs
c.549dupA
1 paper
NM_001323289.2
p.L184delFs
c.551delT
35 papers
NM_001323289.2
p.R178Q
c.533G>A
20 papers
NM_001323289.2
p.R178P
c.533G>C
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