Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.I146V

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_005476.7
p.I146V
c.436A>G
Surrounding Variants
1 paper
NM_001128227.3
p.D175E
c.525C>G
1 paper
NM_001128227.3
p.D175insFs
c.524dupA
1 paper
NM_001128227.3
p.D175E
c.525C>A
1 paper
NM_001128227.3
p.D175fs
c.523_524fs
2 papers
NM_001128227.3
p.H179R
c.536A>G
4 papers
NM_001128227.3
p.H179Q
c.537T>G
4 papers
NM_001128227.3
p.H179Q
c.537T>A
1 paper
NM_005476.7
p.D143A
c.428A>C
2 papers
NM_005476.7
p.S139_I142delFs
c.416_426del11
1 paper
NM_001128227.3
p.A180S
c.538G>T
1 paper
NM_001128227.3
p.I173delFs
c.519delA
4 papers
NM_001128227.3
p.A180V
c.539C>T
NM_005476.7
p.A149V
c.446C>T
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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."