Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y516fs

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.Y516fs
c.1546_1547fs
Surrounding Variants
3 papers
NM_001323289.2
p.Y516_P518delFs
c.1547_1554del8
1 paper
NM_001323289.2
p.F517delFs
c.1549delT
2 papers
NM_001323289.2
p.P518delFs
c.1553delC
1 paper
NM_001323289.2
p.P518fs
c.1552_1553fs
1 paper
NM_001323289.2
p.C521S
c.1562G>C
1 paper
NM_001323289.2
p.P511delFs
c.1533delC
1 paper
NM_001323289.2
p.E510K
c.1528G>A
2 papers
NM_001323289.2
p.L522V
c.1564T>G
2 papers
NM_001323289.2
p.A509V
c.1526C>T
1 paper
NM_001323289.2
p.A509_E510insGT
c.1525_1529ins6
1 paper
NM_001323289.2
p.D523delFs
c.1568delA
1 paper
NM_001323289.2
p.A509_E510del2
c.1525_1529del6
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