Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G700E

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.G700E
c.2099G>A
NM_005476.7
p.G669E
c.2006G>A
Surrounding Variants
11 papers
NM_005476.7
p.G669R
c.2005G>C
NM_001128227.3
p.G700R
c.2098G>C
10 papers
NM_001128227.3
p.G700R
c.2098G>A
NM_005476.7
p.G669R
c.2005G>A
3 papers
NM_001128227.3
p.S699F
c.2096C>T
1 paper
NM_001128227.3
p.A703T
c.2107G>A
9 papers
NM_001128227.3
p.V696M
c.2086G>A
NM_005476.7
p.V665M
c.1993G>A
4 papers
NM_001128227.3
p.H705R
c.2114A>G
16 papers
NM_005476.7
p.Y675H
c.2023T>C
NM_001128227.3
p.Y706H
c.2116T>C
1 paper
NM_005476.7
p.S663S
c.1989C>A
1 paper
NM_005476.7
p.S663F
c.1988C>T
3 papers
NM_001128227.3
p.Y706C
c.2117A>G
NM_005476.7
p.Y675C
c.2024A>G
18 papers
NM_005476.7
p.P662L
c.1985C>T
1 paper
NM_001128227.3
p.P693S
c.2077C>T
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