Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K463E

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
2 papers
NM_001323289.2
p.K463E
c.1387A>G
Surrounding Variants
5 papers
NM_001323289.2
p.Q464*
c.1390C>T
1 paper
NM_001323289.2
p.N461S
c.1382A>G
7 papers
NM_001323289.2
p.Q459*
c.1375C>T
1 paper
NM_001323289.2
p.S468_I470del0
c.1403_1408del6
2 papers
NM_001323289.2
p.H467P
c.1400A>C
5 papers
NM_001323289.2
p.H467R
c.1400A>G
1 paper
NM_001323289.2
p.L458fs
c.1372_1373fs
1 paper
NM_001323289.2
p.S468T
c.1403G>C
2 papers
NM_001323289.2
p.T457insFs
c.1371dupA
1 paper
NM_001323289.2
p.D471fs
c.1411_1412fs
1 paper
NM_001323289.2
p.A455S
c.1363G>T
2 papers
NM_001323289.2
p.D471delFs
c.1412delA
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