Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A587_P588del2

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.A587_P588del2
c.1759_1763del6
Surrounding Variants
1 paper
NM_001323289.2
p.S586fs
c.1756_1757fs
1 paper
NM_001323289.2
p.L585L
c.1755G>T
1 paper
NM_001323289.2
p.S586delFs
c.1757_1758delCT
1 paper
NM_001323289.2
p.P588delFs
c.1763delC
1 paper
NM_001323289.2
p.P588fs
c.1762_1763fs
1 paper
NM_001323289.2
p.H589H
c.1767C>T
1 paper
NM_001323289.2
p.E590K
c.1768G>A
2 papers
NM_001323289.2
p.H581Y
c.1741C>T
1 paper
NM_001323289.2
p.S593insFs
c.1777_1778insT
2 papers
NM_001323289.2
p.S580_H581del2
c.1738_1742del6
1 paper
NM_001323289.2
p.S593fs
c.1777_1778fs
3 papers
NM_001323289.2
p.Y594*
c.1782T>A
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