Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.V73M

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.V73M
c.217G>A
Surrounding Variants
2 papers
NM_001323289.2
p.V73L
c.217G>C
1 paper
NM_001323289.2
p.V73L
c.217G>T
6 papers
NM_001323289.2
p.I72I
c.216T>A
2 papers
NM_001323289.2
p.I72M
c.216T>G
19 papers
NM_001323289.2
p.I72N
c.215T>A
14 papers
NM_001323289.2
p.I72T
c.215T>C
4 papers
NM_001323289.2
p.E74*
c.220G>T
3 papers
NM_001323289.2
p.I72del1
c.214_215delATT
2 papers
NM_001323289.2
p.N71S
c.212A>G
12 papers
NM_001323289.2
p.N71D
c.211A>G
1 paper
NM_001323289.2
p.N71fs
c.211_212fs
1 paper
NM_001323289.2
p.L75L
c.223T>C
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