Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.Q219P

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
12 papers
NM_001323289.2
p.Q219P
c.656A>C
Surrounding Variants
3 papers
NM_001323289.2
p.Q219R
c.656A>G
2 papers
NM_001323289.2
p.Q219K
c.655C>A
1 paper
NM_001323289.2
p.Q219E
c.655C>G
1 paper
NM_001323289.2
p.L220delFs
c.660delT
1 paper
NM_001323289.2
p.F221delFs
c.662_663delTT
1 paper
NM_001323289.2
p.D218delFs
c.654delC
27 papers
NM_001323289.2
p.L220P
c.659T>C
1 paper
NM_001323289.2
p.T222I
c.665C>T
4 papers
NM_001323289.2
p.S215R
c.645T>A
4 papers
NM_001323289.2
p.S215R
c.645T>G
1 paper
NM_001323289.2
p.I223S
c.668T>G
4 papers
NM_001323289.2
p.S215R
c.643A>C
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