Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T958R

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.T958R
c.2873C>G
Surrounding Variants
10 papers
NM_001323289.2
p.L952L
c.2854C>T
5 papers
NM_001323289.2
p.R948*
c.2842C>T
1 paper
NM_001323289.2
p.T944_N953del10
c.2830_2858del30
2 papers
NM_001323289.2
p.R943fs
c.2827_2828fs
2 papers
NM_001323289.2
p.R943fs
c.2827_2828fs
4 papers
NM_001323289.2
p.R943delFs
c.2828_2829delGA
2 papers
NM_001323289.2
p.Y941delFs
c.2821delT
2 papers
NM_001323289.2
p.N937insFs
c.2809_2810insA
1 paper
NM_001323289.2
p.G935W
c.2803G>T
1 paper
NM_001323289.2
p.L930insFs
c.2788_2789insG
1 paper
NM_001323289.2
p.L930insFs
c.2789dupT
1 paper
NM_001323289.2
p.Q929*
c.2785C>T
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