Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R478K

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.R478K
c.1433G>A
Surrounding Variants
3 papers
NM_001323289.2
p.R478insFs
c.1432_1433insT
1 paper
NM_001323289.2
p.S479insFs
c.1435dupA
1 paper
NM_001323289.2
p.S477S
c.1431T>C
1 paper
NM_001323289.2
p.S477T
c.1429T>A
1 paper
NM_001323289.2
p.Q475H
c.1425G>C
1 paper
NM_001323289.2
p.Q475H
c.1425G>T
1 paper
NM_001323289.2
p.Q475*
c.1423C>T
2 papers
NM_001323289.2
p.Y482delFs
c.1446delC
2 papers
NM_001323289.2
p.Y482*
c.1446C>A
2 papers
NM_001323289.2
p.Y482*
c.1446C>G
2 papers
NM_001323289.2
p.R483_T484insFs
c.1449_1452dup4
2 papers
NM_001323289.2
p.I473L
c.1417A>C
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