Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R550*

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
35 papers
NM_001323289.2
p.R550*
c.1648C>T
Surrounding Variants
3 papers
NM_001323289.2
p.R550Q
c.1649G>A
1 paper
NM_001323289.2
p.N551_E552insC
c.1651_1655ins3
1 paper
NM_001323289.2
p.G546R
c.1636G>A
1 paper
NM_001323289.2
p.G546R
c.1636G>C
3 papers
NM_001323289.2
p.S557insFs
c.1671dupA
1 paper
NM_001323289.2
p.R558fs
c.1672_1673fs
1 paper
NM_001323289.2
p.R558fs
c.1672_1673fs
1 paper
NM_001323289.2
p.R559R
c.1675C>A
27 papers
NM_001323289.2
p.R559*
c.1675C>T
1 paper
NM_001323289.2
p.T562_R563delFs
c.1684_1687del4
3 papers
NM_001323289.2
p.T538A
c.1612A>G
1 paper
NM_001323289.2
p.T562A
c.1684A>G
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