Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.G304D

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
3 papers
NM_003885.3
p.G304D
c.911G>A
Surrounding Variants
1 paper
NM_003885.3
p.L303_G304insFs
c.909_910insA
1 paper
NM_003885.3
p.D306G
c.917A>G
4 papers
NM_003885.3
p.L302I
c.904C>A
1 paper
NM_003885.3
p.R307insFs
c.919_920insC
1 paper
NM_003885.3
p.K298N
c.894G>C
2 papers
NM_003885.3
p.K298N
c.894G>T
1 paper
NM_003885.3
p.D297N
c.889G>A
1 paper
NM_003885.3
p.D297Y
c.889G>T
1 paper
NM_003885.3
p.E296K
c.886G>A
1 paper
NM_003885.3
p.G294G
c.882C>T
1 paper
NM_003885.3
p.E292K
c.874G>A
1 paper
NM_003885.3
p.D288E
c.864C>G
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