Varaico: Literature-Extracted Genetic Variants

Gene:CDKL5
Variant:p.L839P

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.L839P
c.2516T>C
Surrounding Variants
1 paper
NM_001323289.2
p.S838_S847del10
c.2512_2540del30
2 papers
NM_001323289.2
p.L836_K837delFs
c.2507_2510del4
1 paper
NM_001323289.2
p.P835Q
c.2504C>A
3 papers
NM_001323289.2
p.L843delFs
c.2529delA
3 papers
NM_001323289.2
p.P835fs
c.2503_2504fs
2 papers
NM_001323289.2
p.P835fs
c.2503_2504fs
2 papers
NM_001323289.2
p.H844insFs
c.2530_2531insA
7 papers
NM_001323289.2
p.P835delFs
c.2504delC
16 papers
NM_001323289.2
p.Q834*
c.2500C>T
1 paper
NM_001323289.2
p.S833fs
c.2497_2498fs
1 paper
NM_001323289.2
p.S833_Q834insTT
c.2497_2501ins6
1 paper
NM_001323289.2
p.S833fs
c.2497_2498fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."