Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N888delFs

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.N888delFs
c.2663delA
Surrounding Variants
1 paper
NM_001323289.2
p.S887fs
c.2659_2660fs
1 paper
NM_001323289.2
p.S887_I889delFs
c.2660_2666del7
1 paper
NM_001323289.2
p.G885R
c.2653G>A
1 paper
NM_001323289.2
p.G885R
c.2653G>C
1 paper
NM_001323289.2
p.Q891_A894delFs
c.2673_2682del10
1 paper
NM_001323289.2
p.G884G
c.2652C>T
3 papers
NM_001323289.2
p.Q891_E892insTT
c.2671_2675ins6
1 paper
NM_001323289.2
p.E892E
c.2676A>G
6 papers
NM_001323289.2
p.P895L
c.2684C>T
2 papers
NM_001323289.2
p.L879fs
c.2635_2636fs
6 papers
NM_001323289.2
p.L879fs
c.2635_2636fs
29 papers
NM_001323289.2
p.L879delFs
c.2635_2636delCT
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."