Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L142_I143delFs

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.L142_I143delFs
c.426_429del4
Surrounding Variants
9 papers
NM_001323289.2
p.L142*
c.425T>A
9 papers
NM_001323289.2
p.L142*
c.425T>G
1 paper
NM_001323289.2
p.L142F
c.426A>C
1 paper
NM_001323289.2
p.L142F
c.426A>T
1 paper
NM_001323289.2
p.L142V
c.424T>G
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.I143fs
c.427_428fs
6 papers
NM_001323289.2
p.L141L
c.423C>G
4 papers
NM_001323289.2
p.I143N
c.428T>A
1 paper
NM_001323289.2
p.L141P
c.422T>C
2 papers
NM_001323289.2
p.L141F
c.421C>T
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