Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E358K

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
2 papers
NM_001323289.2
p.E358K
c.1072G>A
Surrounding Variants
2 papers
NM_001323289.2
p.D357delFs
c.1071delC
1 paper
NM_001323289.2
p.G359delFs
c.1075delG
1 paper
NM_001323289.2
p.G359fs
c.1075_1076fs
5 papers
NM_001323289.2
p.G359D
c.1076G>A
1 paper
NM_001323289.2
p.L360fs
c.1078_1079fs
3 papers
NM_001323289.2
p.L360delFs
c.1079delT
1 paper
NM_001323289.2
p.A356fs
c.1066_1067fs
1 paper
NM_001323289.2
p.L360P
c.1079T>C
1 paper
NM_001323289.2
p.P361insFs
c.1082_1083insC
1 paper
NM_001323289.2
p.R355Q
c.1064G>A
1 paper
NM_001323289.2
p.A356insFs
c.1066dupG
1 paper
NM_001323289.2
p.A362_L371del10
c.1084_1112del30
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