Varaico: Literature-Extracted Genetic Variants

Gene:CDK5R1
Variant:p.L207F

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.L207F
c.619C>T
Surrounding Variants
1 paper
NM_003885.3
p.M206K
c.617T>A
1 paper
NM_003885.3
p.L204_I212delins
c.612_635delinsAATTGAGTCTTAGAAAAGTTAAGC
1 paper
NM_003885.3
p.R209T
c.626G>C
1 paper
NM_003885.3
p.D210N
c.628G>A
1 paper
NM_003885.3
p.D210G
c.629A>G
1 paper
NM_003885.3
p.F203Y
c.608T>A
1 paper
NM_003885.3
p.I212F
c.634A>T
1 paper
NM_003885.3
p.V202I
c.604G>A
1 paper
NM_003885.3
p.S214T
c.640T>A
1 paper
NM_003885.3
p.S214A
c.640T>G
1 paper
NM_003885.3
p.P198T
c.592C>A
1 paper
NM_003885.3
p.G217_H220delFs
c.649_659del11
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