Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L141F

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.L141F
c.421C>T
Surrounding Variants
1 paper
NM_001323289.2
p.L141P
c.422T>C
1 paper
NM_001323289.2
p.N140S
c.419A>G
6 papers
NM_001323289.2
p.L141L
c.423C>G
2 papers
NM_001323289.2
p.N140insFs
c.418_419insG
1 paper
NM_001323289.2
p.N140fs
c.418_419fs
1 paper
NM_001323289.2
p.N140fs
c.418_419fs
1 paper
NM_001323289.2
p.L142V
c.424T>G
9 papers
NM_001323289.2
p.L142*
c.425T>A
9 papers
NM_001323289.2
p.L142*
c.425T>G
2 papers
NM_001323289.2
p.L142_I143delFs
c.426_429del4
1 paper
NM_001323289.2
p.L142F
c.426A>C
1 paper
NM_001323289.2
p.E139G
c.416A>G
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