Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D523delFs

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.D523delFs
c.1568delA
Surrounding Variants
2 papers
NM_001323289.2
p.L522V
c.1564T>G
1 paper
NM_001323289.2
p.C521S
c.1562G>C
2 papers
NM_001323289.2
p.P527delFs
c.1581delC
1 paper
NM_001323289.2
p.P527fs
c.1579_1580fs
1 paper
NM_001323289.2
p.T528fs
c.1582_1583fs
1 paper
NM_001323289.2
p.P518fs
c.1552_1553fs
2 papers
NM_001323289.2
p.P518delFs
c.1553delC
1 paper
NM_001323289.2
p.F517delFs
c.1549delT
1 paper
NM_001323289.2
p.S529T
c.1586G>C
3 papers
NM_001323289.2
p.P530_R534delFs
c.1589_1602del14
1 paper
NM_001323289.2
p.Y516fs
c.1546_1547fs
3 papers
NM_001323289.2
p.Y516_P518delFs
c.1547_1554del8
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