Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L397insFs

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.L397insFs
c.1189_1190insT
Surrounding Variants
1 paper
NM_001323289.2
p.D396E
c.1188T>A
1 paper
NM_001323289.2
p.D396E
c.1188T>G
5 papers
NM_001323289.2
p.N399T
c.1196A>C
2 papers
NM_001323289.2
p.T393I
c.1178C>T
1 paper
NM_001323289.2
p.I402insFs
c.1205_1206insG
1 paper
NM_001323289.2
p.H404_L405insFs
c.1212_1213insAC
1 paper
NM_001323289.2
p.P403S
c.1207C>T
1 paper
NM_001323289.2
p.P403Q
c.1208C>A
1 paper
NM_001323289.2
p.P390fs
c.1168_1169fs
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.L406del1
c.1216_1218delCTT
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."