Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R340_S341delFs

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.R340_S341delFs
c.1020_1023del4
Surrounding Variants
1 paper
NM_001323289.2
p.K344delFs
c.1030delA
1 paper
NM_001323289.2
p.K344ins1
c.1030_1031insGAC
1 paper
NM_001323289.2
p.Q336delFs
c.1008delG
1 paper
NM_001323289.2
p.Q336_S343delFs
c.1008_1029del22
1 paper
NM_001323289.2
p.Q336delFs
c.1007_1008delAG
1 paper
NM_001323289.2
p.Q336fs
c.1006_1007fs
5 papers
NM_001323289.2
p.L335L
c.1005G>A
5 papers
NM_001323289.2
p.L335delFs
c.1005delG
1 paper
NM_001323289.2
p.A334S
c.1000G>T
19 papers
NM_001323289.2
p.Q347*
c.1039C>T
1 paper
NM_001323289.2
p.Q347delFs
c.1040_1041delAG
1 paper
NM_001323289.2
p.T333N
c.998C>A
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