Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G185Splc

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
3 papers
NM_001323289.2
p.G185Splc
c.554+5G>A
Surrounding Variants
1 paper
NM_001323289.2
p.G185S
c.553G>A
2 papers
NM_001323289.2
p.L184H
c.551T>A
1 paper
NM_001323289.2
p.L184insFs
c.551_552insC
1 paper
NM_001323289.2
p.L184delFs
c.551delT
1 paper
NM_001323289.2
p.L183*
c.548T>A
1 paper
NM_001323289.2
p.L183*
c.548T>G
2 papers
NM_001323289.2
p.L183insFs
c.549dupA
8 papers
NM_001323289.2
p.L182P
c.545T>C
4 papers
NM_001323289.2
p.E181A
c.542A>C
2 papers
NM_001323289.2
p.E181K
c.541G>A
1 paper
NM_001323289.2
p.P180_E181insFs
c.540_543dup4
24 papers
NM_001323289.2
p.P180L
c.539C>T
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