Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q347*

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
19 papers
NM_001323289.2
p.Q347*
c.1039C>T
Surrounding Variants
1 paper
NM_001323289.2
p.Q347delFs
c.1040_1041delAG
1 paper
NM_001323289.2
p.L349delFs
c.1047delG
1 paper
NM_001323289.2
p.K344ins1
c.1030_1031insGAC
1 paper
NM_001323289.2
p.K344delFs
c.1030delA
1 paper
NM_001323289.2
p.V351I
c.1051G>A
1 paper
NM_001323289.2
p.R340_S341delFs
c.1020_1023del4
1 paper
NM_001323289.2
p.P354_P361del8
c.1060_1082del24
1 paper
NM_001323289.2
p.P354H
c.1061C>A
1 paper
NM_001323289.2
p.A356insFs
c.1066dupG
1 paper
NM_001323289.2
p.R355Q
c.1064G>A
1 paper
NM_001323289.2
p.A356fs
c.1066_1067fs
2 papers
NM_001323289.2
p.D357delFs
c.1071delC
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