Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.N276S

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.N276S
c.827A>G
Surrounding Variants
1 paper
NM_003885.3
p.N276_A277delFs
c.828_831del4
1 paper
NM_003885.3
p.I275_N276insFs
c.825_826insA
1 paper
NM_003885.3
p.L273delFs
c.818delT
1 paper
NM_003885.3
p.M272I
c.816G>A
2 papers
NM_003885.3
p.Y281C
c.842A>G
1 paper
NM_003885.3
p.S269S
c.807C>T
1 paper
NM_003885.3
p.Q284insFs
c.850_851ins4
1 paper
NM_003885.3
p.M268I
c.804G>A
1 paper
NM_003885.3
p.S269_I275ins2
c.805_825dup21
1 paper
NM_003885.3
p.N266N
c.798C>T
1 paper
NM_003885.3
p.D288A
c.863A>C
1 paper
NM_003885.3
p.D288E
c.864C>G
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