Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.G155Splc

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.G155Splc
c.464-8T>G
Surrounding Variants
7 papers
NM_001323289.2
p.G155Splc
c.464-2A>G
1 paper
NM_001323289.2
p.G155Splc
c.464-1G>A
2 papers
NM_001323289.2
p.G155D
c.464G>A
1 paper
NM_001323289.2
p.G155fs
c.463_464fs
1 paper
NM_001323289.2
p.A157P
c.469G>C
2 papers
NM_001323289.2
p.A157S
c.469G>T
2 papers
NM_001323289.2
p.A157V
c.470C>T
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
1 paper
NM_001323289.2
p.N159delFs
c.476delA
1 paper
NM_001323289.2
p.N159S
c.476A>G
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