Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.R183S

CDK5R1

482 papers

RefSeq Summary

The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The ...

Pfam Domains

CDK5_activatoraa 107–295UCSCCyclin-dependent kinase 5 activator protein

Gene Aliases

HGNC Name

cyclin dependent kinase 5 regulatory subunit 1

HGNC Alias Symbols

p35nck5a; Nck5a; p35

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003885.3
p.R183S
c.547C>A
Surrounding Variants
1 paper
NM_003885.3
p.R183L
c.548G>T
1 paper
NM_003885.3
p.V181delFs
c.542delT
1 paper
NM_003885.3
p.L186F
c.556C>T
3 papers
NM_003885.3
p.L178L
c.532C>T
1 paper
NM_003885.3
p.Q188*
c.562C>T
1 paper
NM_003885.3
p.V175L
c.523G>T
1 paper
NM_003885.3
p.P174L
c.521C>T
1 paper
NM_003885.3
p.D192N
c.574G>A
1 paper
NM_003885.3
p.D192E
c.576C>A
1 paper
NM_003885.3
p.D192E
c.576C>G
1 paper
NM_003885.3
p.T172T
c.516G>A
1 paper
NM_003885.3
p.G194S
c.580G>A
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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."