Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.C152*

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
3 papers
NM_001323289.2
p.C152*
c.456T>A
Surrounding Variants
2 papers
NM_001323289.2
p.C152Y
c.455G>A
28 papers
NM_001323289.2
p.C152F
c.455G>T
2 papers
NM_001323289.2
p.D153A
c.458A>C
5 papers
NM_001323289.2
p.D153G
c.458A>G
5 papers
NM_001323289.2
p.D153V
c.458A>T
5 papers
NM_001323289.2
p.C152R
c.454T>C
1 paper
NM_001323289.2
p.D153E
c.459C>A
1 paper
NM_001323289.2
p.F154insFs
c.460dupT
1 paper
NM_001323289.2
p.D153E
c.459C>G
1 paper
NM_001323289.2
p.F154L
c.460T>C
1 paper
NM_001323289.2
p.F154V
c.460T>G
2 papers
NM_001323289.2
p.C152_D153delFs
c.456_457delTG
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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."