Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.A186T

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
4 papers
NM_001323289.2
p.A186T
c.556G>A
Surrounding Variants
1 paper
NM_001323289.2
p.A186fs
c.556_557fs
1 paper
NM_001037343.2
p.G185Splc
c.555-1G>A
2 papers
NM_001323289.2
p.A186delFs
c.556_557delGC
1 paper
NM_001323289.2
p.P187_S191del0
c.560_571del12
1 paper
NM_001323289.2
p.Y188N
c.562T>A
2 papers
NM_001323289.2
p.K190delFs
c.569delA
1 paper
NM_001323289.2
p.K190fs
c.568_569fs
1 paper
NM_001323289.2
p.S191delFs
c.573delC
1 paper
NM_001323289.2
p.S191S
c.573C>G
1 paper
NM_001323289.2
p.V192M
c.574G>A
3 papers
NM_001323289.2
p.G185Splc
c.555-19C>G
3 papers
NM_001323289.2
p.D193N
c.577G>A
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