Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K190fs

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.K190fs
c.568_569fs
Surrounding Variants
2 papers
NM_001323289.2
p.K190delFs
c.569delA
1 paper
NM_001323289.2
p.S191delFs
c.573delC
1 paper
NM_001323289.2
p.S191S
c.573C>G
1 paper
NM_001323289.2
p.V192M
c.574G>A
1 paper
NM_001323289.2
p.Y188N
c.562T>A
1 paper
NM_001323289.2
p.P187_S191del0
c.560_571del12
3 papers
NM_001323289.2
p.D193N
c.577G>A
3 papers
NM_001323289.2
p.D193H
c.577G>C
9 papers
NM_001323289.2
p.D193G
c.578A>G
1 paper
NM_001323289.2
p.D193V
c.578A>T
2 papers
NM_001323289.2
p.M194delFs
c.580_581delAT
1 paper
NM_001323289.2
p.M194fs
c.580_581fs
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