Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L61P

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
2 papers
NM_001323289.2
p.L61P
c.182T>C
Surrounding Variants
25 papers
NM_001323289.2
p.L61delFs
c.183delT
1 paper
NM_001323289.2
p.L61L
c.183T>A
1 paper
NM_001323289.2
p.K62delFs
c.186delA
1 paper
NM_001323289.2
p.K62_M63delFs
c.186_187delAA
1 paper
NM_001323289.2
p.K62*
c.184A>T
4 papers
NM_001323289.2
p.K62N
c.186A>T
1 paper
NM_001323289.2
p.E60K
c.178G>A
1 paper
NM_001323289.2
p.E60Q
c.178G>C
1 paper
NM_001323289.2
p.E60*
c.178G>T
2 papers
NM_001323289.2
p.M63fs
c.187_188fs
5 papers
NM_001323289.2
p.M63fs
c.187_188fs
2 papers
NM_001323289.2
p.R59P
c.176G>C
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