Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R2
Variant:p.G48S

CDK5R2

171 papers

RefSeq Summary

The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. It associates with CDK5 to form an active kinase. This protein and neuron-specific CDK5 activator CDK5R1/p39NCK5A both s...

Pfam Domains

CDK5_activatoraa 163–331UCSCCyclin-dependent kinase 5 activator protein

Gene Aliases

HGNC Name

cyclin dependent kinase 5 regulatory subunit 2

HGNC Alias Symbols

p39nck5ai; P39; NCK5AI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003936.5
p.G48S
c.142G>A
Surrounding Variants
1 paper
NM_003936.5
p.G48D
c.143G>A
1 paper
NM_003936.5
p.K49E
c.145A>G
1 paper
NM_003936.5
p.G47R
c.139G>C
1 paper
NM_003936.5
p.G45S
c.133G>A
1 paper
NM_003936.5
p.G38A
c.113G>C
1 paper
NM_003936.5
p.G38R
c.112G>C
1 paper
NM_003936.5
p.G37R
c.109G>A
1 paper
NM_003936.5
p.G37R
c.109G>C
1 paper
NM_003936.5
p.L36R
c.107T>G
1 paper
NM_003936.5
p.S62S
c.186G>T
1 paper
NM_003936.5
p.G32W
c.94G>T
1 paper
NM_003936.5
p.P30L
c.89C>T
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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."