Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.A544D

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.A544D
c.1631C>A
Surrounding Variants
1 paper
NM_001199397.3
p.M545R
c.1634T>G
7 papers
NM_001199397.3
p.M545T
c.1634T>C
2 papers
NM_001199397.3
p.R542Q
c.1625G>A
3 papers
NM_001199397.3
p.Q546R
c.1637A>G
2 papers
NM_001199397.3
p.N547fs
c.1639_1640fs
8 papers
NM_001199397.3
p.N547insFs
c.1640dupA
2 papers
NM_001199397.3
p.R540*
c.1618C>T
6 papers
NM_001199397.3
p.R550*
c.1648C>T
1 paper
NM_001199397.3
p.E536delFs
c.1607_1608delCT
1 paper
NM_001199397.3
p.E536K
c.1606G>A
1 paper
NM_001199397.3
p.M555V
c.1663A>G
3 papers
NM_001199397.3
p.M555I
c.1665G>T
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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."