Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T393I

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
2 papers
NM_001323289.2
p.T393I
c.1178C>T
Surrounding Variants
1 paper
NM_001323289.2
p.P390fs
c.1168_1169fs
1 paper
NM_001323289.2
p.D396E
c.1188T>A
1 paper
NM_001323289.2
p.D396E
c.1188T>G
1 paper
NM_001323289.2
p.L397insFs
c.1189_1190insT
1 paper
NM_001323289.2
p.P390_G391del0
c.1168_1173del6
1 paper
NM_001323289.2
p.Q389_S392delFs
c.1167_1176del10
1 paper
NM_001323289.2
p.Q389*
c.1165C>T
1 paper
NM_001323289.2
p.S388_D396delFs
c.1164_1188del25
7 papers
NM_001323289.2
p.S388_P403delFs
c.1164_1207del44
1 paper
NM_001323289.2
p.S388_T398delFs
c.1163_1193del31
1 paper
NM_001323289.2
p.S388_N399delFs
c.1163_1197del35
5 papers
NM_001323289.2
p.N399T
c.1196A>C
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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."