Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L64P

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
10 papers
NM_001323289.2
p.L64P
c.191T>C
Surrounding Variants
1 paper
NM_001323289.2
p.L64_R65insT
c.190_194ins3
1 paper
NM_001323289.2
p.R65R
c.193C>A
7 papers
NM_001323289.2
p.R65Q
c.194G>A
2 papers
NM_001323289.2
p.M63fs
c.187_188fs
5 papers
NM_001323289.2
p.M63fs
c.187_188fs
4 papers
NM_001323289.2
p.K62N
c.186A>T
3 papers
NM_001323289.2
p.T66delFs
c.197_198delCT
1 paper
NM_001323289.2
p.K62*
c.184A>T
4 papers
NM_001323289.2
p.L67F
c.199C>T
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
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