Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.S196delFs

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.S196delFs
c.587_588delCG
Surrounding Variants
2 papers
NM_001323289.2
p.S196W
c.587C>G
22 papers
NM_001323289.2
p.S196L
c.587C>T
1 paper
NM_001323289.2
p.V197delFs
c.590_591delTG
1 paper
NM_001323289.2
p.V197fs
c.589_590fs
4 papers
NM_001323289.2
p.W195R
c.583T>A
4 papers
NM_001323289.2
p.W195R
c.583T>C
1 paper
NM_001323289.2
p.W195fs
c.583_584fs
1 paper
NM_001323289.2
p.V197A
c.590T>C
1 paper
NM_001323289.2
p.G198delFs
c.593delG
1 paper
NM_001323289.2
p.M194insFs
c.582dupG
1 paper
NM_001323289.2
p.M194fs
c.580_581fs
1 paper
NM_001323289.2
p.G198R
c.592G>C
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