Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.C199G

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.C199G
c.595T>G
Surrounding Variants
5 papers
NM_001323289.2
p.C199R
c.595T>C
1 paper
NM_001323289.2
p.C199_I200delFs
c.597_598delTA
5 papers
NM_001323289.2
p.G198D
c.593G>A
1 paper
NM_001323289.2
p.G198delFs
c.594delC
1 paper
NM_001323289.2
p.I200F
c.598A>T
4 papers
NM_001323289.2
p.L201del1
c.601_602delCTT
1 paper
NM_001323289.2
p.G198R
c.592G>C
1 paper
NM_001323289.2
p.G198fs
c.592_593fs
1 paper
NM_001323289.2
p.I200N
c.599T>A
1 paper
NM_001323289.2
p.V197A
c.590T>C
1 paper
NM_001323289.2
p.L201delFs
c.601delC
1 paper
NM_001323289.2
p.G198delFs
c.593delG
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