Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K76E

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.K76E
c.226A>G
Surrounding Variants
1 paper
NM_001323289.2
p.K76_E77delFs
c.228_229delGG
4 papers
NM_001323289.2
p.E77_A78delFs
c.229_232del4
1 paper
NM_001323289.2
p.E77fs
c.229_230fs
1 paper
NM_001323289.2
p.E77fs
c.229_230fs
1 paper
NM_001323289.2
p.L75L
c.223T>C
4 papers
NM_001323289.2
p.E74*
c.220G>T
3 papers
NM_001323289.2
p.A78delFs
c.234delA
2 papers
NM_001323289.2
p.V73M
c.217G>A
2 papers
NM_001323289.2
p.V73L
c.217G>C
1 paper
NM_001323289.2
p.V73L
c.217G>T
6 papers
NM_001323289.2
p.I72I
c.216T>A
1 paper
NM_001323289.2
p.F79S
c.236T>C
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