Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.C92C

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.C92C
c.276C>T
Surrounding Variants
2 papers
NM_003885.3
p.A93V
c.278C>T
1 paper
NM_003885.3
p.S91L
c.272C>T
1 paper
NM_003885.3
p.N94K
c.282C>A
3 papers
NM_003885.3
p.L90M
c.268C>A
1 paper
NM_003885.3
p.L95R
c.284T>G
1 paper
NM_003885.3
p.S96T
c.286T>A
1 paper
NM_003885.3
p.K88E
c.262A>G
1 paper
NM_003885.3
p.K87_K88ins3
c.261_262ins9
1 paper
NM_003885.3
p.E84A
c.251A>C
1 paper
NM_003885.3
p.N83H
c.247A>C
1 paper
NM_003885.3
p.N82I
c.245A>T
1 paper
NM_003885.3
p.P103S
c.307C>T
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