Varaico: Literature-Extracted Genetic Variants

Gene:FN3K
Variant:p.Q50L

FN3K

32 papers

RefSeq Summary

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active ...

Pfam Domains

Fructosamin_kinaa 2–309UCSCFructosamine kinase

Gene Aliases

HGNC Name

fructosamine 3 kinase

HGNC Alias Name

protein-ribulosamine 3-kinase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022158.4
p.Q50L
c.149A>T
Surrounding Variants
1 paper
NM_022158.4
p.E55A
c.164A>C
1 paper
NM_022158.4
p.R63R
c.187A>C
1 paper
NM_022158.4
p.S64N
c.191G>A
1 paper
NM_022158.4
p.D78V
c.233A>T
1 paper
NM_022158.4
p.S98Splc
c.294-27A>G
1 paper
NM_022158.4
p.S98Splc
c.294-27A>T
1 paper
NM_022158.4
p.D34G
c.101A>G
1 paper
NM_022158.4
p.Y31*
c.93C>A
1 paper
NM_022158.4
p.Y31*
c.93C>G
1 paper
NM_022158.4
p.Y31delFs
c.93delC
1 paper
NM_022158.4
p.E27K
c.79G>A
1 paper
NM_022158.4
p.C24S
c.71G>C
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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."