Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L901L

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.L901L
c.2703C>T
Surrounding Variants
2 papers
NM_001323289.2
p.Q902*
c.2704C>T
1 paper
NM_001323289.2
p.Q902fs
c.2704_2705fs
1 paper
NM_001323289.2
p.Q902delFs
c.2706delG
2 papers
NM_001323289.2
p.P904delFs
c.2711delC
1 paper
NM_001323289.2
p.P904fs
c.2710_2711fs
1 paper
NM_001323289.2
p.P904L
c.2711C>T
1 paper
NM_001323289.2
p.G905S
c.2713G>A
1 paper
NM_001323289.2
p.R898_P899insT
c.2692_2696ins3
1 paper
NM_003159.3
p.D905Splc
c.2713+1G>A
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.K896K
c.2688G>A
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