Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A334S

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.A334S
c.1000G>T
Surrounding Variants
1 paper
NM_001323289.2
p.T333N
c.998C>A
1 paper
NM_001323289.2
p.T333_A334insG
c.997_1001ins3
1 paper
NM_001323289.2
p.T333ins1
c.997_998insTCG
1 paper
NM_001323289.2
p.S332S
c.996T>C
5 papers
NM_001323289.2
p.L335delFs
c.1005delG
5 papers
NM_001323289.2
p.L335L
c.1005G>A
1 paper
NM_001323289.2
p.Q336delFs
c.1007_1008delAG
1 paper
NM_001323289.2
p.Q336fs
c.1006_1007fs
1 paper
NM_001323289.2
p.Q336delFs
c.1008delG
1 paper
NM_001323289.2
p.Q336_S343delFs
c.1008_1029del22
1 paper
NM_001323289.2
p.K331delFs
c.991delA
1 paper
NM_001323289.2
p.Q328*
c.982C>T
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