Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R2
Variant:p.L266V

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.L266V
c.796C>G
Surrounding Variants
1 paper
NM_003936.5
p.L268_Y272del0
c.802_816del15
1 paper
NM_003936.5
p.Y270F
c.809A>T
1 paper
NM_003936.5
p.M273_E276delFs
c.818_827del10
1 paper
NM_003936.5
p.M273I
c.819G>A
1 paper
NM_003936.5
p.S278fs
c.832_833fs
1 paper
NM_003936.5
p.R248L
c.743G>T
1 paper
NM_003936.5
p.E287insFs
c.859dupG
1 paper
NM_003936.5
p.E245G
c.734A>G
1 paper
NM_003936.5
p.E287fs
c.859_860fs
1 paper
NM_003936.5
p.R244H
c.731G>A
2 papers
NM_003936.5
p.C243Y
c.728G>A
1 paper
NM_003936.5
p.L241del1
c.721_722delCTG
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