Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.H1023Q

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.H1023Q
c.3069C>G
Surrounding Variants
1 paper
NM_001199397.3
p.H1023Q
c.3069C>A
1 paper
NM_001199398.3
p.S977Fs
c.2931delinsGGFs
1 paper
NM_001199397.3
p.H1016_H1020del5
c.3046_3059del15
1 paper
NM_001199397.3
p.K1017N
c.3051G>T
1 paper
NM_001199397.3
p.K1017N
c.3051G>C
2 papers
NM_001199397.3
p.V1030fs
c.3088_3089fs
1 paper
NM_001199397.3
p.Q1031E
c.3091C>G
1 paper
NM_001199397.3
p.Q1031R
c.3092A>G
1 paper
NM_012224.4
p.F987L
c.2961C>G
1 paper
NM_012224.4
p.F987L
c.2961C>A
1 paper
NM_001199397.3
p.F1015delFs
c.3044delA
3 papers
NM_001199397.3
p.V1030_Q1031delFs
c.3088_3092del5
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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."