Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.R812*

NEK1

314 papers

RefSeq Summary

The protein encoded by this gene is a serine/threonine kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role i...

Pfam Domains

Pkinaseaa 4–258UCSCProtein kinase domain

Gene Aliases

HGNC Name

NIMA related kinase 1

HGNC Alias Symbols

NY-REN-55; KIAA1901

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001199397.3
p.R812*
c.2434A>T
Surrounding Variants
2 papers
NM_001199397.3
p.R812Splc
c.2435-1G>A
1 paper
NM_001199397.3
p.T814A
c.2440A>G
1 paper
NM_001199397.3
p.T814T
c.2442A>G
1 paper
NM_001199397.3
p.V818I
c.2452G>A
1 paper
NM_001199397.3
p.N824D
c.2470A>G
1 paper
NM_001199397.3
p.G825V
c.2474G>T
1 paper
NM_001199397.3
p.P827T
c.2479C>A
2 papers
NM_001199397.3
p.R829S
c.2487A>C
2 papers
NM_001199397.3
p.S834C
c.2500A>T
2 papers
NM_001199397.3
p.P835L
c.2504C>T
1 paper
NM_001199397.3
p.S838T
c.2512T>A
1 paper
NM_001199397.3
p.K841E
c.2521A>G
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