Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D52G

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.D52G
c.155A>G
Surrounding Variants
1 paper
NM_001128227.3
p.D52_Y53insFs
c.156_157ins4
1 paper
NM_005476.7
p.R19_D21delFs
c.55_62del8
1 paper
NM_005476.7
p.A20insFs
c.60dupA
1 paper
NM_005476.7
p.A20_Y22del3
c.58_65del9
1 paper
NM_005476.7
p.R19H
c.56G>A
1 paper
NM_005476.7
p.R19delFs
c.55delG
1 paper
NM_005476.7
p.R19fs
c.55_56fs
1 paper
NM_005476.7
p.R19C
c.55C>T
1 paper
NM_005476.7
p.K24Fs
c.70delinsTAGFs
1 paper
NM_005476.7
p.T16insFs
c.47dupC
4 papers
NM_005476.7
p.A26P
c.76G>C
NM_001128227.3
p.A57P
c.169G>C
3 papers
NM_001128227.3
p.A57delins
c.169_170delinsTT
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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."