Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.I201_R202insFs

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.I201_R202insFs
c.601_604dup4
Surrounding Variants
9 papers
NM_005476.7
p.R202L
c.605G>T
NM_001128227.3
p.R233L
c.698G>T
1 paper
NM_001128227.3
p.W235R
c.703T>C
1 paper
NM_001128227.3
p.W235R
c.703T>A
9 papers
NM_001128227.3
p.W235*
c.704G>A
NM_005476.7
p.W204*
c.611G>A
9 papers
NM_005476.7
p.W204*
c.612G>A
NM_001128227.3
p.W235*
c.705G>A
12 papers
NM_005476.7
p.I200F
c.598A>T
NM_001128227.3
p.I231F
c.691A>T
1 paper
NM_005476.7
p.L205L
c.613C>T
1 paper
NM_005476.7
p.S199I
c.596G>T
1 paper
NM_001128227.3
p.Y228_M229ins0
c.682_687dup6
1 paper
NM_001128227.3
p.M229_S230ins2
c.687_688ins6
8 papers
NM_005476.7
p.G206S
c.616G>A
NM_001128227.3
p.G237S
c.709G>A
1 paper
NM_005476.7
p.G206delFs
c.616delC
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