Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.H844insFs

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
2 papers
NM_001323289.2
p.H844insFs
c.2530_2531insA
Surrounding Variants
3 papers
NM_001323289.2
p.L843delFs
c.2529delA
1 paper
NM_001323289.2
p.S847L
c.2540C>T
1 paper
NM_001323289.2
p.S847S
c.2541G>A
1 paper
NM_001323289.2
p.L839P
c.2516T>C
1 paper
NM_001323289.2
p.S849L
c.2546C>T
1 paper
NM_001323289.2
p.S838_S847del10
c.2512_2540del30
1 paper
NM_001323289.2
p.H851Y
c.2551C>T
1 paper
NM_001323289.2
p.H851R
c.2552A>G
2 papers
NM_001323289.2
p.L836_K837delFs
c.2507_2510del4
2 papers
NM_001323289.2
p.P852L
c.2555C>T
1 paper
NM_001323289.2
p.P835Q
c.2504C>A
3 papers
NM_001323289.2
p.P835fs
c.2503_2504fs
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