Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Y171*

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
6 papers
NM_001323289.2
p.Y171*
c.513C>A
Surrounding Variants
6 papers
NM_001323289.2
p.Y171*
c.513C>G
1 paper
NM_001323289.2
p.Y171C
c.512A>G
2 papers
NM_001323289.2
p.Y171F
c.512A>T
6 papers
NM_001323289.2
p.V172I
c.514G>A
1 paper
NM_001323289.2
p.Y171N
c.511T>A
1 paper
NM_001323289.2
p.E170insFs
c.509_510insGT
2 papers
NM_001323289.2
p.A173P
c.517G>C
6 papers
NM_001323289.2
p.A173D
c.518C>A
2 papers
NM_001323289.2
p.A173G
c.518C>G
1 paper
NM_001323289.2
p.E170fs
c.508_509fs
2 papers
NM_001323289.2
p.E170*
c.508G>T
1 paper
NM_001323289.2
p.E170fs
c.508_509fs
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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."