Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R2
Variant:p.R196*

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
3 papers
NM_003936.5
p.R196*
c.586C>T
Surrounding Variants
1 paper
NM_003936.5
p.V194A
c.581T>C
1 paper
NM_003936.5
p.L201_K202del1
c.603_605delCAA
1 paper
NM_003936.5
p.A181V
c.542C>T
1 paper
NM_003936.5
p.G215S
c.643G>A
1 paper
NM_003936.5
p.R176Q
c.527G>A
1 paper
NM_003936.5
p.G172D
c.515G>A
1 paper
NM_003936.5
p.L220P
c.659T>C
1 paper
NM_003936.5
p.P167delFs
c.501delG
1 paper
NM_003936.5
p.Q226delFs
c.676delC
1 paper
NM_003936.5
p.P163_Q164insT
c.487_491ins3
1 paper
NM_003936.5
p.P161S
c.481C>T
1 paper
NM_003936.5
p.P160S
c.478C>T
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