Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K54E

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.K54E
c.160A>G
Surrounding Variants
3 papers
NM_001323289.2
p.K54fs
c.160_161fs
2 papers
NM_001323289.2
p.E55del1
c.163_164delGAA
23 papers
NM_001323289.2
p.E55_T56delFs
c.163_166del4
2 papers
NM_001323289.2
p.E55delFs
c.163delG
2 papers
NM_001323289.2
p.E55fs
c.163_164fs
9 papers
NM_001323289.2
p.E55fs
c.163_164fs
1 paper
NM_001323289.2
p.T56P
c.166A>C
1 paper
NM_001323289.2
p.T56delFs
c.167_168delCG
1 paper
NM_001323289.2
p.T56fs
c.166_167fs
1 paper
NM_001323289.2
p.E52_V53insT
c.154_158ins3
1 paper
NM_001323289.2
p.T56M
c.167C>T
1 paper
NM_001323289.2
p.T57P
c.169A>C
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