Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T35P

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
3 papers
NM_001323289.2
p.T35P
c.103A>C
Surrounding Variants
1 paper
NM_001323289.2
p.T35A
c.103A>G
1 paper
NM_001323289.2
p.H36delFs
c.106_107delCA
6 papers
NM_001323289.2
p.T35I
c.104C>T
1 paper
NM_001323289.2
p.H36Y
c.106C>T
1 paper
NM_001323289.2
p.E34*
c.100G>T
1 paper
NM_001323289.2
p.E34fs
c.100_101fs
3 papers
NM_001323289.2
p.H36R
c.107A>G
1 paper
NM_001323289.2
p.K33_E34Splc
c.100-1G>A
6 papers
NM_001323289.2
p.K33_E34Splc
c.100-2A>G
5 papers
NM_001323289.2
p.K33_E34Splc
c.100-2A>T
1 paper
NM_001323289.2
p.E34delFs
c.100delG
1 paper
NM_001323289.2
p.E34_A40delFs
c.100_118del19
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