Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G228R

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.G228R
c.682G>C
Surrounding Variants
1 paper
NM_001323289.2
p.G228R
c.682G>A
1 paper
NM_001323289.2
p.G228E
c.683G>A
2 papers
NM_001323289.2
p.P229_S232del4
c.685_695del12
3 papers
NM_001323289.2
p.L227P
c.680T>C
9 papers
NM_001323289.2
p.L227R
c.680T>G
1 paper
NM_001323289.2
p.G228_P229del2
c.682_686del6
1 paper
NM_001323289.2
p.L227V
c.679C>G
1 paper
NM_001323289.2
p.L227fs
c.679_680fs
1 paper
NM_001323289.2
p.L227insFs
c.679dupC
1 paper
NM_001323289.2
p.V226insFs
c.677_678insA
1 paper
NM_001323289.2
p.K225R
c.674A>G
1 paper
NM_001323289.2
p.K225fs
c.673_674fs
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