Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A372_Q385del14

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.A372_Q385del14
c.1114_1154del42
Surrounding Variants
1 paper
NM_001323289.2
p.A372fs
c.1114_1115fs
1 paper
NM_001323289.2
p.L371I
c.1111C>A
6 papers
NM_001323289.2
p.L371delFs
c.1111delC
2 papers
NM_001323289.2
p.N370fs
c.1108_1109fs
1 paper
NM_001323289.2
p.N370fs
c.1108_1109fs
2 papers
NM_001323289.2
p.N370insFs
c.1108_1109dupAA
1 paper
NM_001323289.2
p.N368_G369del1
c.1104_1106delTGG
1 paper
NM_001323289.2
p.N368H
c.1102A>C
1 paper
NM_001323289.2
p.L376F
c.1126C>T
1 paper
NM_001323289.2
p.P378_S387delFs
c.1132_1159del28
1 paper
NM_001323289.2
p.L379L
c.1135C>T
1 paper
NM_001323289.2
p.L379fs
c.1135_1136fs
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