Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.T431fs

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.T431fs
c.1291_1292fs
Surrounding Variants
1 paper
NM_001323289.2
p.K432delFs
c.1295delA
1 paper
NM_001323289.2
p.T431delFs
c.1291_1292delAC
2 papers
NM_001323289.2
p.G430E
c.1289G>A
1 paper
NM_001323289.2
p.K432fs
c.1294_1295fs
2 papers
NM_001323289.2
p.G428D
c.1283G>A
1 paper
NM_001323289.2
p.G428S
c.1282G>A
1 paper
NM_001323289.2
p.S426_P429del4
c.1276_1286del12
11 papers
NM_001323289.2
p.N437insFs
c.1311dupC
1 paper
NM_001323289.2
p.S438fs
c.1312_1313fs
1 paper
NM_001323289.2
p.R439*
c.1315A>T
2 papers
NM_001323289.2
p.D422E
c.1266C>A
2 papers
NM_001323289.2
p.D422E
c.1266C>G
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