Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T169insFs

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.T169insFs
c.506dupC
Surrounding Variants
2 papers
NM_001323289.2
p.T169A
c.505A>G
1 paper
NM_001323289.2
p.Y168Y
c.504C>T
2 papers
NM_001323289.2
p.E170delFs
c.509_510delAG
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
1 paper
NM_001323289.2
p.Y168delFs
c.503_504delAC
1 paper
NM_001323289.2
p.E170insFs
c.509_510insGT
1 paper
NM_001323289.2
p.Y171N
c.511T>A
1 paper
NM_001323289.2
p.Y171C
c.512A>G
2 papers
NM_001323289.2
p.Y171F
c.512A>T
1 paper
NM_001323289.2
p.N167_Y168del2
c.499_503del6
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."