Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D471A

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.D471A
c.1412A>C
Surrounding Variants
1 paper
NM_001323289.2
p.D471fs
c.1411_1412fs
2 papers
NM_001323289.2
p.D471delFs
c.1412delA
1 paper
NM_001323289.2
p.T472insFs
c.1415_1416insA
2 papers
NM_001323289.2
p.I473L
c.1417A>C
1 paper
NM_001323289.2
p.I473delFs
c.1419delT
1 paper
NM_001323289.2
p.S468T
c.1403G>C
1 paper
NM_001323289.2
p.Q475*
c.1423C>T
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.S468_I470del0
c.1403_1408del6
1 paper
NM_001323289.2
p.Q475H
c.1425G>C
1 paper
NM_001323289.2
p.Q475H
c.1425G>T
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