Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q208fs

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.Q208fs
c.622_623fs
Surrounding Variants
1 paper
NM_001323289.2
p.Q208*
c.622C>T
1 paper
NM_001323289.2
p.Q208delFs
c.623delA
8 papers
NM_001323289.2
p.G207E
c.620G>A
1 paper
NM_001323289.2
p.P209H
c.626C>A
4 papers
NM_001323289.2
p.P209R
c.626C>G
2 papers
NM_001323289.2
p.P209L
c.626C>T
2 papers
NM_001323289.2
p.L210delFs
c.629delT
3 papers
NM_001323289.2
p.D206N
c.616G>A
2 papers
NM_001323289.2
p.D206Y
c.616G>T
1 paper
NM_001323289.2
p.L210L
c.628T>C
1 paper
NM_001323289.2
p.L210fs
c.628_629fs
1 paper
NM_001323289.2
p.L210F
c.630A>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."