Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S438fs

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.S438fs
c.1312_1313fs
Surrounding Variants
11 papers
NM_001323289.2
p.N437insFs
c.1311dupC
1 paper
NM_001323289.2
p.R439*
c.1315A>T
1 paper
NM_001323289.2
p.Q442_S446del5
c.1324_1337del15
1 paper
NM_001323289.2
p.N443insFs
c.1327_1328insT
1 paper
NM_001323289.2
p.K432fs
c.1294_1295fs
1 paper
NM_001323289.2
p.R444S
c.1330C>A
5 papers
NM_001323289.2
p.R444C
c.1330C>T
1 paper
NM_001323289.2
p.R444H
c.1331G>A
1 paper
NM_001323289.2
p.K432delFs
c.1295delA
1 paper
NM_001323289.2
p.T431fs
c.1291_1292fs
1 paper
NM_001323289.2
p.T431delFs
c.1291_1292delAC
2 papers
NM_001323289.2
p.G430E
c.1289G>A
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