Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H583R

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.H583R
c.1748A>G
Surrounding Variants
1 paper
NM_005476.7
p.G549E
c.1646G>A
9 papers
NM_005476.7
p.L556S
c.1667T>C
NM_001128227.3
p.L587S
c.1760T>C
3 papers
NM_001128227.3
p.G579S
c.1735G>A
NM_005476.7
p.G548S
c.1642G>A
1 paper
NM_005476.7
p.G547delFs
c.1639_1640delCC
7 papers
NM_005476.7
p.I557T
c.1670T>C
NM_001128227.3
p.I588T
c.1763T>C
4 papers
NM_001128227.3
p.G578S
c.1732G>A
2 papers
NM_005476.7
p.G545_I546delFs
c.1634_1637del4
19 papers
NM_005476.7
p.G559R
c.1675G>C
NM_001128227.3
p.G590R
c.1768G>C
20 papers
NM_005476.7
p.G559R
c.1675G>A
NM_001128227.3
p.G590R
c.1768G>A
2 papers
NM_001128227.3
p.G576delFs
c.1727delC
NM_005476.7
p.G545delFs
c.1634delC
3 papers
NM_005476.7
p.G559A
c.1676G>C
NM_001128227.3
p.G590A
c.1769G>C
1 paper
NM_001128227.3
p.G576A
c.1727G>C
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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."