Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.V209E

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
2 papers
NM_005476.7
p.V209E
c.626T>A
Surrounding Variants
6 papers
NM_001128227.3
p.D239E
c.717T>G
NM_005476.7
p.D208E
c.624T>G
6 papers
NM_001128227.3
p.D239E
c.717T>A
NM_005476.7
p.D208E
c.624T>A
1 paper
NM_001128227.3
p.D239V
c.716A>T
8 papers
NM_001128227.3
p.D239N
c.715G>A
NM_005476.7
p.D208N
c.622G>A
13 papers
NM_005476.7
p.K210N
c.630A>T
1 paper
NM_005476.7
p.S211C
c.632C>G
69 papers
NM_005476.7
p.D207V
c.620A>T
1 paper
NM_005476.7
p.S211_K212insFs
c.633_634insA
1 paper
NM_001128227.3
p.D238fs
c.712_713fs
1 paper
NM_005476.7
p.D207N
c.619G>A
2 papers
NM_005476.7
p.G206delFs
c.617delC
NM_001128227.3
p.G237delFs
c.710delC
2 papers
NM_001128227.3
p.G237fs
c.709_710fs
NM_005476.7
p.G206fs
c.616_617fs
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