Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y594*

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
4 papers
NM_001323289.2
p.Y594*
c.1782T>G
Surrounding Variants
3 papers
NM_001323289.2
p.Y594*
c.1782T>A
3 papers
NM_001323289.2
p.G595insFs
c.1784dupG
1 paper
NM_001323289.2
p.G595R
c.1783G>A
1 paper
NM_001323289.2
p.G595R
c.1783G>C
1 paper
NM_001323289.2
p.G595delFs
c.1785delA
1 paper
NM_001323289.2
p.L596fs
c.1786_1787fs
1 paper
NM_001323289.2
p.S593fs
c.1777_1778fs
1 paper
NM_001323289.2
p.G597_Y598del2
c.1789_1793del6
4 papers
NM_001323289.2
p.G597delFs
c.1791delC
3 papers
NM_001323289.2
p.G597_Y598insFs
c.1791_1792insG
1 paper
NM_001323289.2
p.S593insFs
c.1777_1778insT
3 papers
NM_001323289.2
p.Y598fs
c.1792_1793fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."