Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.N167_Y168del2

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.N167_Y168del2
c.499_503del6
Surrounding Variants
1 paper
NM_001323289.2
p.Y168delFs
c.503_504delAC
1 paper
NM_001323289.2
p.N165H
c.493A>C
1 paper
NM_001323289.2
p.Y168Y
c.504C>T
1 paper
NM_001323289.2
p.T169insFs
c.506dupC
2 papers
NM_001323289.2
p.T169A
c.505A>G
1 paper
NM_001323289.2
p.N164I
c.491A>T
2 papers
NM_001323289.2
p.E170delFs
c.509_510delAG
1 paper
NM_001323289.2
p.E170fs
c.508_509fs
2 papers
NM_001323289.2
p.E170*
c.508G>T
1 paper
NM_001323289.2
p.E170fs
c.508_509fs
1 paper
NM_001323289.2
p.E170insFs
c.509_510insGT
1 paper
NM_001323289.2
p.E162D
c.486A>C
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