Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5

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
1–12 of 1190 variants
61 papers
NM_001323289.2
p.R59*
c.175C>T
43 papers
NM_001323289.2
p.A40V
c.119C>T
36 papers
NM_001323289.2
p.K42R
c.125A>G
35 papers
NM_001323289.2
p.R178Q
c.533G>A
35 papers
NM_001323289.2
p.R550*
c.1648C>T
30 papers
NM_001323289.2
p.R178W
c.532C>T
29 papers
NM_001323289.2
p.R175S
c.525A>T
29 papers
NM_001323289.2
p.L879delFs
c.2635_2636delCT
28 papers
NM_001323289.2
p.C152F
c.455G>T
28 papers
NM_001323289.2
p.R175S
c.525A>C
27 papers
NM_001323289.2
p.L220P
c.659T>C
27 papers
NM_001323289.2
p.R559*
c.1675C>T
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