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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FN3K

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 46 variants

3 papers

chr17:82750474 G>A

NM_022158.4

p.D217N

c.649G>A

Fructosamin_kin

exact variant not in gnomAD10 overlapping SVs

3 papers

chr17:82750475 A>C

NM_022158.4

p.D217A

c.650A>C

Fructosamin_kin

exact variant not in gnomAD10 overlapping SVs

3 papers

chr17:82750525 G>A

NM_022158.4

p.D234N

c.700G>A

Fructosamin_kin

Exome: 0.0% (AC=5, hom=0)Genome: n/a10 overlapping SVs

3 papers

chr17:82750725 C>G

NM_022158.4

p.S300S

c.900C>G

Fructosamin_kin

Exome: 61.0% (AC=891727, hom=272585)Genome: 62.4% (AC=94604, hom=29574)10 overlapping SVs

2 papers

chr17:82750556 T>A

NM_022158.4

p.F244Y

c.731T>A

Fructosamin_kin

Exome: 0.0% (AC=2, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr17:82750604 T>A

NM_022158.4

p.F260Y

c.779T>A

Fructosamin_kin

exact variant not in gnomAD10 overlapping SVs

2 papers

chr17:82750675 A>C

NM_022158.4

p.N284H

c.850A>C

Fructosamin_kin

Exome: 0.0% (AC=5, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr17:82735638 T>A

NM_022158.4

p.M1K

c.2T>A

Exome: 0.0% (AC=86, hom=3)Genome: 0.0% (AC=5, hom=1)13 overlapping SVs

1 paper

chr17:82735668 C>A

NM_022158.4

p.T11N

c.32C>A

Fructosamin_kin

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr17:82735691 G>A

NM_022158.4

p.G19S

c.55G>A

Fructosamin_kin

Exome: 0.0% (AC=0, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr17:82735706 T>A

NM_022158.4

p.C24S

c.70T>A

Fructosamin_kin

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

1 paper

chr17:82735707 G>C

NM_022158.4

p.C24S

c.71G>C

Fructosamin_kin

exact variant not in gnomAD13 overlapping SVs

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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."