Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.R59*

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
61 papers
NM_001323289.2
p.R59*
c.175C>T
Surrounding Variants
2 papers
NM_001323289.2
p.R59P
c.176G>C
1 paper
NM_001323289.2
p.E60K
c.178G>A
1 paper
NM_001323289.2
p.E60Q
c.178G>C
1 paper
NM_001323289.2
p.E60*
c.178G>T
1 paper
NM_001323289.2
p.T57P
c.169A>C
25 papers
NM_001323289.2
p.L61delFs
c.183delT
2 papers
NM_001323289.2
p.L61P
c.182T>C
1 paper
NM_001323289.2
p.T56M
c.167C>T
1 paper
NM_001323289.2
p.L61L
c.183T>A
1 paper
NM_001323289.2
p.K62delFs
c.186delA
1 paper
NM_001323289.2
p.K62_M63delFs
c.186_187delAA
1 paper
NM_001323289.2
p.T56P
c.166A>C
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."