Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D494N

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.D494N
c.1480G>A
Surrounding Variants
1 paper
NM_001323289.2
p.D494Fs
c.1482delinsGCCAGGFs
1 paper
NM_001323289.2
p.S493delFs
c.1477delA
1 paper
NM_001323289.2
p.K496*
c.1486A>T
1 paper
NM_001323289.2
p.L492fs
c.1474_1475fs
1 paper
NM_001323289.2
p.A491T
c.1471G>A
1 paper
NM_001323289.2
p.A491fs
c.1471_1472fs
1 paper
NM_001323289.2
p.A491fs
c.1471_1472fs
1 paper
NM_001323289.2
p.A491insFs
c.1471_1472dupGC
1 paper
NM_001323289.2
p.G490V
c.1469G>T
1 paper
NM_001323289.2
p.A491delFs
c.1471delG
2 papers
NM_001323289.2
p.G490_A491delFs
c.1470_1471delGG
1 paper
NM_001323289.2
p.N500_L501insFs
c.1498_1501dup4
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