Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K414_F419del6

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.K414_F419del6
c.1240_1256del18
Surrounding Variants
4 papers
NM_001323289.2
p.S413*
c.1238C>A
1 paper
NM_001323289.2
p.T415insFs
c.1243dupA
4 papers
NM_001323289.2
p.S413*
c.1238C>G
1 paper
NM_001323289.2
p.T415delFs
c.1244_1245delCA
1 paper
NM_001323289.2
p.T415fs
c.1243_1244fs
1 paper
NM_001323289.2
p.K412Q
c.1234A>C
1 paper
NM_001323289.2
p.K412*
c.1234A>T
4 papers
NM_001323289.2
p.E416delFs
c.1247_1248delAG
1 paper
NM_001323289.2
p.A411A
c.1233C>T
1 paper
NM_001323289.2
p.A411_T415delFs
c.1233_1243del11
1 paper
NM_001323289.2
p.E416fs
c.1246_1247fs
1 paper
NM_001323289.2
p.A411_K414del0
c.1232_1240del9
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