Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K68*

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.K68*
c.202A>T
Surrounding Variants
2 papers
NM_001323289.2
p.L67P
c.200T>C
4 papers
NM_001323289.2
p.L67F
c.199C>T
1 paper
NM_001323289.2
p.Q69*
c.205C>T
1 paper
NM_001323289.2
p.Q69P
c.206A>C
2 papers
NM_001323289.2
p.Q69_N71delFs
c.207_213del7
3 papers
NM_001323289.2
p.T66delFs
c.197_198delCT
2 papers
NM_001323289.2
p.N71delFs
c.212delA
7 papers
NM_001323289.2
p.R65Q
c.194G>A
12 papers
NM_001323289.2
p.N71D
c.211A>G
1 paper
NM_001323289.2
p.N71fs
c.211_212fs
1 paper
NM_001323289.2
p.R65R
c.193C>A
2 papers
NM_001323289.2
p.N71S
c.212A>G
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