Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D227Y

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
3 papers
NM_001128227.3
p.D227Y
c.679G>T
Surrounding Variants
1 paper
NM_005476.7
p.N194fs
c.580_581fs
2 papers
NM_001128227.3
p.N225delFs
c.674delT
NM_005476.7
p.N194delFs
c.581delT
3 papers
NM_001128227.3
p.N225fs
c.673_674fs
NM_005476.7
p.N194fs
c.580_581fs
1 paper
NM_005476.7
p.N194D
c.580A>G
1 paper
NM_001128227.3
p.M229_S230ins2
c.687_688ins6
6 papers
NM_005476.7
p.K193M
c.578A>T
1 paper
NM_001128227.3
p.Y228_M229ins0
c.682_687dup6
1 paper
NM_005476.7
p.S199I
c.596G>T
1 paper
NM_001128227.3
p.A223delFs
c.667delC
12 papers
NM_005476.7
p.I200F
c.598A>T
NM_001128227.3
p.I231F
c.691A>T
1 paper
NM_005476.7
p.S191*
c.572C>G
1 paper
NM_005476.7
p.S191*
c.572C>A
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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."