Varaico: Literature-Extracted Genetic Variants

Gene:NEK2
Variant:p.K227*

NEK2

116 papers

RefSeq Summary

This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively...

Pfam Domains

Pkinaseaa 8–271UCSCProtein kinase domain

Gene Aliases

HGNC Name

NIMA related kinase 2

HGNC Alias Symbols

NLK1; NEK2A; RP67; PPP1R111

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002497.4
p.K227*
c.679A>T
Surrounding Variants
1 paper
NM_002497.4
p.A225T
c.673G>A
2 papers
NM_002497.4
p.R235*
c.703C>T
1 paper
NM_002497.4
p.T249M
c.746C>T
1 paper
NM_002497.4
p.K255_D256Splc
c.765+1G>A
4 papers
NM_002497.4
p.L206fs
c.616_617fs
1 paper
NM_002497.4
p.S197*
c.590C>G
1 paper
NM_002497.4
p.S197*
c.590C>A
1 paper
NM_002497.4
p.Y193C
c.578A>G
1 paper
NM_002497.4
p.R259*
c.775C>T
1 paper
NM_002497.4
p.V262I
c.784G>A
1 paper
NM_002497.4
p.E278K
c.832G>A
2 papers
NM_002497.4
p.R285fs
c.853_854fs
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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."