Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.V138_S139insFs

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_005476.7
p.V138_S139insFs
c.414_415insT
Surrounding Variants
1 paper
NM_001128227.3
p.G167G
c.501G>A
1 paper
NM_005476.7
p.G136E
c.407G>A
1 paper
NM_005476.7
p.T141A
c.421A>G
5 papers
NM_005476.7
p.G136R
c.406G>C
NM_001128227.3
p.G167R
c.499G>C
4 papers
NM_001128227.3
p.G167R
c.499G>A
NM_005476.7
p.G136R
c.406G>A
1 paper
NM_001128227.3
p.T172I
c.515C>T
13 papers
NM_005476.7
p.G135V
c.404G>T
NM_001128227.3
p.G166V
c.497G>T
7 papers
NM_005476.7
p.I142T
c.425T>C
NM_001128227.3
p.I173T
c.518T>C
1 paper
NM_005476.7
p.G135C
c.403G>T
1 paper
NM_005476.7
p.G135S
c.403G>A
1 paper
NM_005476.7
p.E134fs
c.400_401fs
1 paper
NM_001128227.3
p.I173delFs
c.519delA
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