Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T56P

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.T56P
c.166A>C
Surrounding Variants
1 paper
NM_001323289.2
p.T56delFs
c.167_168delCG
1 paper
NM_001323289.2
p.T56fs
c.166_167fs
1 paper
NM_001323289.2
p.T56M
c.167C>T
1 paper
NM_001323289.2
p.T57P
c.169A>C
2 papers
NM_001323289.2
p.E55fs
c.163_164fs
9 papers
NM_001323289.2
p.E55fs
c.163_164fs
2 papers
NM_001323289.2
p.E55delFs
c.163delG
3 papers
NM_001323289.2
p.K54fs
c.160_161fs
1 paper
NM_001323289.2
p.K54E
c.160A>G
2 papers
NM_001323289.2
p.E55del1
c.163_164delGAA
23 papers
NM_001323289.2
p.E55_T56delFs
c.163_166del4
61 papers
NM_001323289.2
p.R59*
c.175C>T
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."