Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T383S

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.T383S
c.1147A>T
Surrounding Variants
1 paper
NM_001323289.2
p.T383S
c.1148C>G
1 paper
NM_001323289.2
p.K382_T393delFs
c.1146_1177del32
5 papers
NM_001323289.2
p.Y384_N399delFs
c.1152_1195del44
1 paper
NM_001323289.2
p.Y384_N399del0
c.1152_1196del45
3 papers
NM_001323289.2
p.Y384*
c.1152C>A
3 papers
NM_001323289.2
p.Y384*
c.1152C>G
1 paper
NM_001323289.2
p.Q385_L397delFs
c.1153_1190del38
1 paper
NM_001323289.2
p.Q385_N399delFs
c.1153_1196del44
2 papers
NM_001323289.2
p.T381A
c.1141A>G
1 paper
NM_001323289.2
p.A386delFs
c.1156delG
1 paper
NM_001323289.2
p.Q385_N400Fs
c.1155_1200delinsTCCACCTGFs
1 paper
NM_001323289.2
p.A386fs
c.1156_1157fs
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