Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.M194insFs

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.M194insFs
c.582dupG
Surrounding Variants
1 paper
NM_001323289.2
p.M194fs
c.580_581fs
2 papers
NM_001323289.2
p.M194delFs
c.580_581delAT
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
9 papers
NM_001323289.2
p.D193G
c.578A>G
1 paper
NM_001323289.2
p.D193V
c.578A>T
3 papers
NM_001323289.2
p.D193N
c.577G>A
3 papers
NM_001323289.2
p.D193H
c.577G>C
1 paper
NM_001323289.2
p.S196delFs
c.587_588delCG
2 papers
NM_001323289.2
p.S196W
c.587C>G
22 papers
NM_001323289.2
p.S196L
c.587C>T
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