Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G213*

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.G213*
c.637G>T
Surrounding Variants
5 papers
NM_001323289.2
p.G213R
c.637G>A
5 papers
NM_001323289.2
p.G213R
c.637G>C
8 papers
NM_001323289.2
p.G213E
c.638G>A
1 paper
NM_001323289.2
p.G213insFs
c.638_639insA
2 papers
NM_001323289.2
p.E214_E216del3
c.640_647del9
1 paper
NM_001323289.2
p.E214insFs
c.642dupA
1 paper
NM_001323289.2
p.E214insFs
c.641_642insC
1 paper
NM_001323289.2
p.F211C
c.632T>G
4 papers
NM_001323289.2
p.S215R
c.643A>C
1 paper
NM_001323289.2
p.S215C
c.643A>T
1 paper
NM_001323289.2
p.L210F
c.630A>C
1 paper
NM_001323289.2
p.L210F
c.630A>T
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