Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S529T

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.S529T
c.1586G>C
Surrounding Variants
3 papers
NM_001323289.2
p.P530_R534delFs
c.1589_1602del14
1 paper
NM_001323289.2
p.T528fs
c.1582_1583fs
1 paper
NM_001323289.2
p.T531fs
c.1591_1592fs
1 paper
NM_001323289.2
p.T531fs
c.1591_1592fs
1 paper
NM_001323289.2
p.P527fs
c.1579_1580fs
2 papers
NM_001323289.2
p.P527delFs
c.1581delC
1 paper
NM_001323289.2
p.T533fs
c.1597_1598fs
1 paper
NM_001323289.2
p.H535_S536delFs
c.1605_1606delCA
1 paper
NM_001323289.2
p.H535fs
c.1603_1604fs
1 paper
NM_001323289.2
p.D523delFs
c.1568delA
2 papers
NM_001323289.2
p.L522V
c.1564T>G
1 paper
NM_001323289.2
p.D537_T538insT
c.1609_1613ins3
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