Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S426_P429del4

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.S426_P429del4
c.1276_1286del12
Surrounding Variants
1 paper
NM_001323289.2
p.G428S
c.1282G>A
2 papers
NM_001323289.2
p.G428D
c.1283G>A
2 papers
NM_001323289.2
p.D422E
c.1266C>A
2 papers
NM_001323289.2
p.D422E
c.1266C>G
2 papers
NM_001323289.2
p.G430E
c.1289G>A
1 paper
NM_001323289.2
p.T431delFs
c.1291_1292delAC
1 paper
NM_001323289.2
p.T431fs
c.1291_1292fs
1 paper
NM_001323289.2
p.K432delFs
c.1295delA
1 paper
NM_001323289.2
p.K432fs
c.1294_1295fs
2 papers
NM_001323289.2
p.D418_F419insG
c.1252_1256ins3
1 paper
NM_001323289.2
p.E416fs
c.1246_1247fs
4 papers
NM_001323289.2
p.E416delFs
c.1247_1248delAG
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