Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.P1050L

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
2 papers
NM_001199397.3
p.P1050L
c.3149C>T
Surrounding Variants
1 paper
NM_001199397.3
p.K1052E
c.3154A>G
1 paper
NM_001199397.3
p.N1053D
c.3157A>G
2 papers
NM_001199397.3
p.S1047L
c.3140C>T
1 paper
NM_001199397.3
p.K1054E
c.3160A>G
1 paper
NM_001199397.3
p.E1039_S1040del2
c.3115_3119del6
1 paper
NM_001199397.3
p.E1038_E1039del2
c.3112_3116del6
1 paper
NM_001199397.3
p.E1038K
c.3112G>A
28 papers
NM_001199397.3
p.S1036*
c.3107C>G
2 papers
NM_001199397.3
p.S1064*
c.3191C>G
NM_012224.4
p.S1036*
c.3107C>G
26 papers
NM_001199397.3
p.S1036*
c.3107C>A
2 papers
NM_001199397.3
p.S1064*
c.3191C>A
NM_012224.4
p.S1036*
c.3107C>A
2 papers
NM_001199397.3
p.T1065A
c.3193A>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."