Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.S214A

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.S214A
c.640T>G
Surrounding Variants
1 paper
NM_003885.3
p.S214T
c.640T>A
1 paper
NM_003885.3
p.I212F
c.634A>T
1 paper
NM_003885.3
p.G217_H220delFs
c.649_659del11
1 paper
NM_003885.3
p.G217insFs
c.649_650insC
1 paper
NM_003885.3
p.D210G
c.629A>G
1 paper
NM_003885.3
p.D210N
c.628G>A
1 paper
NM_003885.3
p.S218S
c.654G>A
1 paper
NM_003885.3
p.R209T
c.626G>C
1 paper
NM_003885.3
p.L207F
c.619C>T
1 paper
NM_003885.3
p.E221K
c.661G>A
1 paper
NM_003885.3
p.E221_L222insFs
c.663_664insTT
1 paper
NM_003885.3
p.M206K
c.617T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."