Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T921delFs

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.T921delFs
c.2762_2763delCA
Surrounding Variants
1 paper
NM_001323289.2
p.Q929*
c.2785C>T
1 paper
NM_001323289.2
p.W911*
c.2733G>A
2 papers
NM_001323289.2
p.W911*
c.2732G>A
1 paper
NM_001323289.2
p.L930insFs
c.2788_2789insG
1 paper
NM_001323289.2
p.L930insFs
c.2789dupT
3 papers
NM_001323289.2
p.Q906*
c.2716C>T
NM_003159.3
p.D905Splc
c.2713+3C>T
1 paper
NM_001323289.2
p.Q906delFs
c.2717delA
1 paper
NM_001323289.2
p.G935W
c.2803G>T
1 paper
NM_003159.3
p.D905Splc
c.2713+1G>A
1 paper
NM_001323289.2
p.G905S
c.2713G>A
2 papers
NM_001323289.2
p.N937insFs
c.2809_2810insA
1 paper
NM_001323289.2
p.P904L
c.2711C>T
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