Varaico: Literature-Extracted Genetic Variants

Gene:FN3K
Variant:p.Y280H

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.Y280H
c.838T>C
Surrounding Variants
1 paper
NM_022158.4
p.R276R
c.828G>A
2 papers
NM_022158.4
p.N284H
c.850A>C
1 paper
NM_022158.4
p.N284T
c.851A>C
1 paper
NM_022158.4
p.D274A
c.821A>C
1 paper
NM_022158.4
p.Y296_R297delFs
c.886_890del5
2 papers
NM_022158.4
p.F260Y
c.779T>A
3 papers
NM_022158.4
p.S300S
c.900C>G
1 paper
NM_022158.4
p.S300S
c.900C>T
1 paper
NM_022158.4
p.G302G
c.906C>T
1 paper
NM_022158.4
p.L246M
c.736C>A
2 papers
NM_022158.4
p.F244Y
c.731T>A
1 paper
NM_022158.4
p.Y239C
c.716A>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."