Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L160_G163del4

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
2 papers
NM_001323289.2
p.L160_G163del4
c.478_488del12
Surrounding Variants
1 paper
NM_001323289.2
p.N159N
c.477T>C
1 paper
NM_001323289.2
p.N159S
c.476A>G
1 paper
NM_001323289.2
p.L160R
c.479T>G
1 paper
NM_001323289.2
p.S161_G163del3
c.481_488del9
1 paper
NM_001323289.2
p.S161_N164del4
c.481_491del12
1 paper
NM_001323289.2
p.N159delFs
c.476delA
2 papers
NM_001323289.2
p.R158H
c.473G>A
11 papers
NM_001323289.2
p.R158P
c.473G>C
2 papers
NM_001323289.2
p.R158L
c.473G>T
2 papers
NM_001323289.2
p.A157V
c.470C>T
1 paper
NM_001323289.2
p.E162*
c.484G>T
1 paper
NM_001323289.2
p.A157P
c.469G>C
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