Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.F211delFs

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.F211delFs
c.633delT
Surrounding Variants
1 paper
NM_001323289.2
p.L210F
c.630A>C
1 paper
NM_001323289.2
p.L210F
c.630A>T
1 paper
NM_001323289.2
p.L210L
c.628T>C
1 paper
NM_001323289.2
p.F211C
c.632T>G
1 paper
NM_001323289.2
p.L210fs
c.628_629fs
1 paper
NM_001323289.2
p.P209H
c.626C>A
4 papers
NM_001323289.2
p.P209R
c.626C>G
2 papers
NM_001323289.2
p.P209L
c.626C>T
2 papers
NM_001323289.2
p.L210delFs
c.629delT
5 papers
NM_001323289.2
p.G213R
c.637G>A
5 papers
NM_001323289.2
p.G213R
c.637G>C
1 paper
NM_001323289.2
p.G213*
c.637G>T
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