Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L87V

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.L87V
c.259T>G
Surrounding Variants
1 paper
NM_001323289.2
p.Y86*
c.258C>A
1 paper
NM_001323289.2
p.Y86*
c.258C>G
1 paper
NM_001323289.2
p.L87S
c.260T>C
1 paper
NM_001323289.2
p.F89delFs
c.265delT
1 paper
NM_001323289.2
p.F89fs
c.265_266fs
1 paper
NM_001323289.2
p.F89S
c.266T>C
2 papers
NM_001323289.2
p.K84R
c.251A>G
1 paper
NM_001323289.2
p.G83E
c.248G>A
6 papers
NM_001323289.2
p.G83V
c.248G>T
1 paper
NM_001323289.2
p.V92L
c.274G>C
5 papers
NM_001323289.2
p.V92insFs
c.275_276insAA
2 papers
NM_001323289.2
p.V92_E93insFs
c.276_277insAA
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