Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R858C

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.R858C
c.2572C>T
Surrounding Variants
1 paper
NM_001323289.2
p.R858fs
c.2572_2573fs
2 papers
NM_001323289.2
p.R858delFs
c.2572delC
4 papers
NM_001323289.2
p.Q860*
c.2578C>T
8 papers
NM_001323289.2
p.S855*
c.2564C>A
8 papers
NM_001323289.2
p.S855*
c.2564C>G
1 paper
NM_001323289.2
p.S854F
c.2561C>T
2 papers
NM_001323289.2
p.P852L
c.2555C>T
1 paper
NM_001323289.2
p.H851R
c.2552A>G
5 papers
NM_001323289.2
p.Q865*
c.2593C>T
1 paper
NM_001323289.2
p.H851Y
c.2551C>T
1 paper
NM_001323289.2
p.Q866*
c.2596C>T
1 paper
NM_001323289.2
p.S849L
c.2546C>T
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