Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N71fs

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.N71fs
c.211_212fs
Surrounding Variants
12 papers
NM_001323289.2
p.N71D
c.211A>G
2 papers
NM_001323289.2
p.N71S
c.212A>G
3 papers
NM_001323289.2
p.I72del1
c.214_215delATT
2 papers
NM_001323289.2
p.N71delFs
c.212delA
19 papers
NM_001323289.2
p.I72N
c.215T>A
14 papers
NM_001323289.2
p.I72T
c.215T>C
1 paper
NM_001323289.2
p.Q69P
c.206A>C
2 papers
NM_001323289.2
p.Q69_N71delFs
c.207_213del7
6 papers
NM_001323289.2
p.I72I
c.216T>A
2 papers
NM_001323289.2
p.I72M
c.216T>G
1 paper
NM_001323289.2
p.Q69*
c.205C>T
2 papers
NM_001323289.2
p.V73M
c.217G>A
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