Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K150R

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.K150R
c.449A>G
Surrounding Variants
1 paper
NM_001323289.2
p.L151insFs
c.451dupC
1 paper
NM_001323289.2
p.L149L
c.447A>T
2 papers
NM_001323289.2
p.C152_D153delFs
c.456_457delTG
1 paper
NM_001323289.2
p.L149_K150delFs
c.447_448delAA
5 papers
NM_001323289.2
p.C152R
c.454T>C
2 papers
NM_001323289.2
p.C152Y
c.455G>A
28 papers
NM_001323289.2
p.C152F
c.455G>T
3 papers
NM_001323289.2
p.C152*
c.456T>A
2 papers
NM_001323289.2
p.D153A
c.458A>C
5 papers
NM_001323289.2
p.D153G
c.458A>G
5 papers
NM_001323289.2
p.D153V
c.458A>T
1 paper
NM_001323289.2
p.V148_L149delFs
c.442_446del5
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