Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.L249P

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.L249P
c.746T>C
Surrounding Variants
1 paper
NM_003885.3
p.V250L
c.748G>T
2 papers
NM_003885.3
p.Y243Y
c.729C>T
2 papers
NM_003885.3
p.E255K
c.763G>A
1 paper
NM_003885.3
p.Y243C
c.728A>G
1 paper
NM_003885.3
p.E255V
c.764A>T
1 paper
NM_003885.3
p.I241_E255del15
c.721_764del45
1 paper
NM_003885.3
p.R260H
c.779G>A
1 paper
NM_003885.3
p.S263P
c.787T>C
1 paper
NM_003885.3
p.Y234*
c.702C>A
1 paper
NM_003885.3
p.Y234*
c.702C>G
1 paper
NM_003885.3
p.N266N
c.798C>T
1 paper
NM_003885.3
p.Y231C
c.692A>G
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