Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A248T

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.A248T
c.742G>A
Surrounding Variants
19 papers
NM_005476.7
p.V216A
c.647T>C
NM_001128227.3
p.V247A
c.740T>C
1 paper
NM_005476.7
p.Q219*
c.655C>T
6 papers
NM_005476.7
p.Q219K
c.655C>A
NM_001128227.3
p.Q250K
c.748C>A
1 paper
NM_005476.7
p.H220Y
c.658C>T
3 papers
NM_001128227.3
p.H251P
c.752A>C
7 papers
NM_005476.7
p.D213V
c.638A>T
NM_001128227.3
p.D244V
c.731A>T
1 paper
NM_005476.7
p.D213A
c.638A>C
2 papers
NM_005476.7
p.K212insFs
c.636dupA
1 paper
NM_005476.7
p.P221T
c.661C>A
1 paper
NM_005476.7
p.S211_K212insFs
c.633_634insA
1 paper
NM_005476.7
p.S211C
c.632C>G
13 papers
NM_005476.7
p.K210N
c.630A>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."