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
10 papers
NM_001323289.2
p.G155Splc
c.463+1G>A
Surrounding Variants
1 paper
NM_001323289.2
p.F154L
c.462T>A
1 paper
NM_001323289.2
p.F154L
c.462T>G
1 paper
NM_001323289.2
p.G155Splc
c.463+4A>C
1 paper
NM_001323289.2
p.G155Splc
c.463+4A>G
3 papers
NM_001323289.2
p.G155Splc
c.463+5G>A
1 paper
NM_001323289.2
p.F154L
c.460T>C
1 paper
NM_001323289.2
p.F154V
c.460T>G
1 paper
NM_001323289.2
p.D153E
c.459C>A
1 paper
NM_001323289.2
p.F154insFs
c.460dupT
1 paper
NM_001323289.2
p.D153E
c.459C>G
2 papers
NM_001323289.2
p.D153A
c.458A>C
5 papers
NM_001323289.2
p.D153G
c.458A>G
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