Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N146S

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.N146S
c.437A>G
Surrounding Variants
1 paper
NM_001323289.2
p.N146H
c.436A>C
1 paper
NM_001323289.2
p.N146D
c.436A>G
1 paper
NM_001323289.2
p.N146insFs
c.437dupA
1 paper
NM_001323289.2
p.V148_L149delFs
c.442_446del5
6 papers
NM_001323289.2
p.H145Y
c.433C>T
4 papers
NM_001323289.2
p.I143N
c.428T>A
1 paper
NM_001323289.2
p.L149_K150delFs
c.447_448delAA
1 paper
NM_001323289.2
p.I143_L151ins3
c.428_451dup24
1 paper
NM_001323289.2
p.I143V
c.427A>G
1 paper
NM_001323289.2
p.L149L
c.447A>T
1 paper
NM_001323289.2
p.I143fs
c.427_428fs
1 paper
NM_001323289.2
p.L142F
c.426A>C
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