Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.E503_A504del2

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.E503_A504del2
c.1507_1511del6
Surrounding Variants
1 paper
NM_001323289.2
p.L501fs
c.1501_1502fs
1 paper
NM_001323289.2
p.N500I
c.1499A>T
1 paper
NM_001323289.2
p.N500_L501insFs
c.1498_1501dup4
3 papers
NM_001323289.2
p.Q507*
c.1519C>T
2 papers
NM_001323289.2
p.I508T
c.1523T>C
1 paper
NM_001323289.2
p.A509_E510del2
c.1525_1529del6
1 paper
NM_001323289.2
p.A509_E510insGT
c.1525_1529ins6
1 paper
NM_001323289.2
p.K496*
c.1486A>T
2 papers
NM_001323289.2
p.A509V
c.1526C>T
1 paper
NM_001323289.2
p.E510K
c.1528G>A
1 paper
NM_001323289.2
p.D494Fs
c.1482delinsGCCAGGFs
1 paper
NM_001323289.2
p.P511delFs
c.1533delC
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