Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.E117E

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
1 paper
NM_001128227.3
p.E117E
c.351G>A
Surrounding Variants
2 papers
NM_005476.7
p.S87P
c.259T>C
2 papers
NM_005476.7
p.E86K
c.256G>A
1 paper
NM_001128227.3
p.V119I
c.355G>A
1 paper
NM_005476.7
p.G89C
c.265G>T
7 papers
NM_005476.7
p.G89R
c.265G>C
NM_001128227.3
p.G120R
c.358G>C
6 papers
NM_001128227.3
p.G120S
c.358G>A
NM_005476.7
p.G89S
c.265G>A
1 paper
NM_005476.7
p.E86_V88ins1
c.256_264dup9
5 papers
NM_005476.7
p.L90L
c.268C>T
1 paper
NM_005476.7
p.A83T
c.247G>A
2 papers
NM_005476.7
p.A82A
c.246A>G
1 paper
NM_005476.7
p.G89_L90insFs
c.267_270dup4
1 paper
NM_005476.7
p.A91A
c.273C>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."