Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A622V

GNE

506 papers

RefSeq Summary

The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in...

Pfam Domains

Epimerase_2aa 32–375UCSCUDP-N-acetylglucosamine 2-epimerase
ROKaa 350–657UCSCROK family

Gene Aliases

HGNC Name

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

HGNC Previous Symbol

IBM2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001128227.3
p.A622V
c.1865C>T
Surrounding Variants
2 papers
NM_005476.7
p.A591P
c.1771G>C
22 papers
NM_001128227.3
p.A622T
c.1864G>A
NM_005476.7
p.A591T
c.1771G>A
1 paper
NM_005476.7
p.S592A
c.1774T>G
3 papers
NM_001128227.3
p.Y621*
c.1863C>G
NM_005476.7
p.Y590*
c.1770C>G
3 papers
NM_001128227.3
p.Y621*
c.1863C>A
NM_005476.7
p.Y590*
c.1770C>A
2 papers
NM_005476.7
p.G593E
c.1778G>A
2 papers
NM_001128227.3
p.A620V
c.1859C>T
7 papers
NM_005476.7
p.A589P
c.1765G>C
NM_001128227.3
p.A620P
c.1858G>C
1 paper
NM_005476.7
p.G593delFs
c.1779delT
1 paper
NM_005476.7
p.A595fs
c.1783_1784fs
1 paper
NM_005476.7
p.I587insFs
c.1760_1761ins4
44 papers
NM_005476.7
p.I587T
c.1760T>C
NM_001128227.3
p.I618T
c.1853T>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."