Varaico: Literature-Extracted Genetic Variants

Gene:GNE

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
1–12 of 1195 variants
158 papers
NM_005476.7
p.M712T
c.2135T>C
108 papers
NM_005476.7
p.D176V
c.527A>T
104 papers
NM_005476.7
p.V572L
c.1714G>C
102 papers
NM_005476.7
p.V572L
c.1714G>T
69 papers
NM_005476.7
p.D207V
c.620A>T
49 papers
NM_005476.7
p.A631V
c.1892C>T
43 papers
NM_005476.7
p.V696M
c.2086G>A
37 papers
NM_001128227.3
p.V603L
c.1807G>C
36 papers
NM_001128227.3
p.D207V
c.620A>T
35 papers
NM_001128227.3
p.V603L
c.1807G>T
29 papers
NM_005476.7
p.R246Q
c.737G>A
28 papers
NM_001128227.3
p.M743T
c.2228T>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."