Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.I876V

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.I876V
c.2626A>G
Surrounding Variants
1 paper
NM_001323289.2
p.P878_L879delFs
c.2634_2635delCC
1 paper
NM_001323289.2
p.H877Q
c.2631C>A
1 paper
NM_001323289.2
p.H877Q
c.2631C>G
29 papers
NM_001323289.2
p.L879delFs
c.2635_2636delCT
2 papers
NM_001323289.2
p.L879fs
c.2635_2636fs
6 papers
NM_001323289.2
p.L879fs
c.2635_2636fs
1 paper
NM_001323289.2
p.G884G
c.2652C>T
1 paper
NM_001323289.2
p.G885R
c.2653G>A
1 paper
NM_001323289.2
p.G885R
c.2653G>C
1 paper
NM_001323289.2
p.Q866*
c.2596C>T
1 paper
NM_001323289.2
p.S887fs
c.2659_2660fs
1 paper
NM_001323289.2
p.S887_I889delFs
c.2660_2666del7
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