Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.K485fs

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
3 papers
NM_001323289.2
p.K485fs
c.1453_1454fs
Surrounding Variants
1 paper
NM_001323289.2
p.T484delFs
c.1452delC
1 paper
NM_001323289.2
p.K485_K487del0
c.1455_1460del6
2 papers
NM_001323289.2
p.R483_T484insFs
c.1449_1452dup4
2 papers
NM_001323289.2
p.Y482*
c.1446C>A
2 papers
NM_001323289.2
p.Y482*
c.1446C>G
2 papers
NM_001323289.2
p.Y482delFs
c.1446delC
1 paper
NM_001323289.2
p.S488N
c.1463G>A
1 paper
NM_001323289.2
p.A491delFs
c.1471delG
2 papers
NM_001323289.2
p.G490_A491delFs
c.1470_1471delGG
1 paper
NM_001323289.2
p.G490V
c.1469G>T
1 paper
NM_001323289.2
p.A491insFs
c.1471_1472dupGC
1 paper
NM_001323289.2
p.A491T
c.1471G>A
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