Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G576Splc

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.G576Splc
c.1727-8C>A
Surrounding Variants
1 paper
NM_001128227.3
p.G576Splc
c.1727-2A>G
5 papers
NM_001128227.3
p.G576R
c.1726G>C
NM_005476.7
p.G545R
c.1633G>C
4 papers
NM_001128227.3
p.G576R
c.1726G>A
NM_005476.7
p.G545R
c.1633G>A
1 paper
NM_001128227.3
p.G576A
c.1727G>C
1 paper
NM_001128227.3
p.G576E
c.1727G>A
3 papers
NM_001128227.3
p.G576fs
c.1726_1727fs
NM_005476.7
p.G545fs
c.1633_1634fs
2 papers
NM_001128227.3
p.G576delFs
c.1727delC
NM_005476.7
p.G545delFs
c.1634delC
2 papers
NM_005476.7
p.G545_I546delFs
c.1634_1637del4
4 papers
NM_001128227.3
p.G578S
c.1732G>A
1 paper
NM_005476.7
p.G547delFs
c.1639_1640delCC
3 papers
NM_001128227.3
p.G579S
c.1735G>A
NM_005476.7
p.G548S
c.1642G>A
1 paper
NM_005476.7
p.G549E
c.1646G>A
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