Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.D218delFs

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.D218delFs
c.654delC
Surrounding Variants
2 papers
NM_001323289.2
p.Q219K
c.655C>A
1 paper
NM_001323289.2
p.Q219E
c.655C>G
12 papers
NM_001323289.2
p.Q219P
c.656A>C
3 papers
NM_001323289.2
p.Q219R
c.656A>G
1 paper
NM_001323289.2
p.L220delFs
c.660delT
1 paper
NM_001323289.2
p.F221delFs
c.662_663delTT
27 papers
NM_001323289.2
p.L220P
c.659T>C
4 papers
NM_001323289.2
p.S215R
c.645T>A
4 papers
NM_001323289.2
p.S215R
c.645T>G
4 papers
NM_001323289.2
p.S215R
c.643A>C
1 paper
NM_001323289.2
p.S215C
c.643A>T
1 paper
NM_001323289.2
p.E214insFs
c.641_642insC
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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."