Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.M577fs

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.M577fs
c.1729_1730fs
Surrounding Variants
1 paper
NM_001323289.2
p.M577_D578delFs
c.1731_1732delGG
1 paper
NM_001323289.2
p.E575V
c.1724A>T
2 papers
NM_001323289.2
p.S580_H581del2
c.1738_1742del6
2 papers
NM_001323289.2
p.H581Y
c.1741C>T
7 papers
NM_001323289.2
p.E570*
c.1708G>T
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.S586fs
c.1756_1757fs
1 paper
NM_001323289.2
p.A587_P588del2
c.1759_1763del6
1 paper
NM_001323289.2
p.T567M
c.1700C>T
1 paper
NM_001323289.2
p.P588delFs
c.1763delC
1 paper
NM_001323289.2
p.P588fs
c.1762_1763fs
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