Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.H404_L405insFs

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.H404_L405insFs
c.1212_1213insAC
Surrounding Variants
1 paper
NM_001323289.2
p.P403S
c.1207C>T
1 paper
NM_001323289.2
p.P403Q
c.1208C>A
1 paper
NM_001323289.2
p.I402insFs
c.1205_1206insG
1 paper
NM_001323289.2
p.L406del1
c.1216_1218delCTT
1 paper
NM_001323289.2
p.L405_K409del5
c.1213_1226del15
2 papers
NM_001323289.2
p.L406F
c.1216C>T
5 papers
NM_001323289.2
p.N399T
c.1196A>C
1 paper
NM_001323289.2
p.L397insFs
c.1189_1190insT
1 paper
NM_001323289.2
p.D396E
c.1188T>A
1 paper
NM_001323289.2
p.D396E
c.1188T>G
1 paper
NM_001323289.2
p.A411_K414del0
c.1232_1240del9
1 paper
NM_001323289.2
p.A411_T415delFs
c.1233_1243del11
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