Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R80P

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.R80P
c.239G>C
Surrounding Variants
3 papers
NM_001323289.2
p.R80H
c.239G>A
1 paper
NM_001323289.2
p.R80L
c.239G>T
2 papers
NM_001323289.2
p.R80C
c.238C>T
1 paper
NM_001323289.2
p.F79S
c.236T>C
3 papers
NM_001323289.2
p.A78delFs
c.234delA
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.E77fs
c.229_230fs
1 paper
NM_001323289.2
p.E77fs
c.229_230fs
2 papers
NM_001323289.2
p.K84R
c.251A>G
1 paper
NM_001323289.2
p.K76_E77delFs
c.228_229delGG
1 paper
NM_001323289.2
p.K76E
c.226A>G
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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."