Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.S730L

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
8 papers
NM_001128227.3
p.S730L
c.2189C>T
NM_005476.7
p.S699L
c.2096C>T
Surrounding Variants
2 papers
NM_005476.7
p.D700H
c.2098G>C
2 papers
NM_005476.7
p.D700N
c.2098G>A
1 paper
NM_001128227.3
p.L732F
c.2196G>C
1 paper
NM_001128227.3
p.V727G
c.2180T>G
1 paper
NM_005476.7
p.D700_V702delFs
c.2098_2104del7
2 papers
NM_001128227.3
p.V727L
c.2179G>T
NM_005476.7
p.V696L
c.2086G>T
2 papers
NM_001128227.3
p.V727L
c.2179G>C
NM_005476.7
p.V696L
c.2086G>C
64 papers
NM_005476.7
p.V696M
c.2086G>A
NM_001128227.3
p.V727M
c.2179G>A
1 paper
NM_005476.7
p.D703ins1
c.2107_2108insAGG
1 paper
NM_001128227.3
p.D734G
c.2201A>G
3 papers
NM_001128227.3
p.P735R
c.2204C>G
1 paper
NM_005476.7
p.P704delFs
c.2112delG
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