Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.L41delFs

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.L41delFs
c.122_123delTG
Surrounding Variants
1 paper
NM_003885.3
p.L41_K42del1
c.122_124delTGA
1 paper
NM_003885.3
p.L41Q
c.122T>A
1 paper
NM_003885.3
p.K42R
c.125A>G
1 paper
NM_003885.3
p.R43_I46delFs
c.128_138del11
1 paper
NM_003885.3
p.D38E
c.114C>A
1 paper
NM_003885.3
p.K37T
c.110A>C
1 paper
NM_003885.3
p.A36A
c.108C>T
1 paper
NM_003885.3
p.A36V
c.107C>T
4 papers
NM_003885.3
p.I47V
c.139A>G
1 paper
NM_003885.3
p.S48S
c.144C>A
1 paper
NM_003885.3
p.S33_N35Fs
c.98_104delinsTCCFs
1 paper
NM_003885.3
p.S33C
c.97A>T
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