Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.L798V

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
1 paper
NM_001199397.3
p.L798V
c.2392C>G
Surrounding Variants
1 paper
NM_001199397.3
p.V795_I796del1
c.2385_2387delATC
1 paper
NM_001199397.3
p.G792D
c.2375G>A
1 paper
NM_001199397.3
p.G791R
c.2371G>C
1 paper
NM_001199397.3
p.G791R
c.2371G>A
1 paper
NM_001199397.3
p.T805fs
c.2413_2414fs
1 paper
NM_001199397.3
p.T805insFs
c.2413dupA
1 paper
NM_001199397.3
p.A790T
c.2368G>A
1 paper
NM_001199397.3
p.S806C
c.2417C>G
3 papers
NM_001199397.3
p.W788*
c.2364G>A
3 papers
NM_001199397.3
p.W788*
c.2363G>A
1 paper
NM_001199397.3
p.R785C
c.2353C>T
2 papers
NM_001199397.3
p.D784E
c.2352T>G
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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."