Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E203E

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.E203E
c.609G>A
Surrounding Variants
10 papers
NM_001323289.2
p.E203D
c.609G>C
10 papers
NM_001323289.2
p.E203D
c.609G>T
1 paper
NM_001323289.2
p.E203G
c.608A>G
1 paper
NM_001323289.2
p.E203V
c.608A>T
1 paper
NM_001323289.2
p.E203K
c.607G>A
2 papers
NM_001323289.2
p.E203Q
c.607G>C
6 papers
NM_001323289.2
p.E203*
c.607G>T
2 papers
NM_001323289.2
p.L204H
c.611T>A
2 papers
NM_001323289.2
p.G202E
c.605G>A
1 paper
NM_001323289.2
p.G202R
c.604G>A
1 paper
NM_001323289.2
p.S205N
c.614G>A
3 papers
NM_001323289.2
p.D206N
c.616G>A
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