Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q452*

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.Q452*
c.1354C>T
Surrounding Variants
1 paper
NM_001323289.2
p.A455S
c.1363G>T
1 paper
NM_001323289.2
p.F447delFs
c.1341delC
1 paper
NM_001323289.2
p.F447_M448del2
c.1339_1343del6
2 papers
NM_001323289.2
p.T457insFs
c.1371dupA
1 paper
NM_001323289.2
p.S446*
c.1337C>A
1 paper
NM_001323289.2
p.S446*
c.1337C>G
1 paper
NM_001323289.2
p.S446L
c.1337C>T
1 paper
NM_001323289.2
p.L458fs
c.1372_1373fs
7 papers
NM_001323289.2
p.Q459*
c.1375C>T
1 paper
NM_001323289.2
p.R444H
c.1331G>A
1 paper
NM_001323289.2
p.R444S
c.1330C>A
5 papers
NM_001323289.2
p.R444C
c.1330C>T
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