Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D176_R177delFs

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.D176_R177delFs
c.528_531del4
Surrounding Variants
4 papers
NM_005476.7
p.I178N
c.533T>A
NM_001128227.3
p.I209N
c.626T>A
1 paper
NM_005476.7
p.R177H
c.530G>A
5 papers
NM_001128227.3
p.I209M
c.627C>G
NM_005476.7
p.I178M
c.534C>G
19 papers
NM_005476.7
p.R177C
c.529C>T
NM_001128227.3
p.R208C
c.622C>T
9 papers
NM_001128227.3
p.L210F
c.628C>T
NM_005476.7
p.L179F
c.535C>T
3 papers
NM_005476.7
p.L179L
c.537T>G
137 papers
NM_001128227.3
p.D207V
c.620A>T
NM_005476.7
p.D176V
c.527A>T
3 papers
NM_001128227.3
p.E204A
c.611A>C
NM_005476.7
p.E173A
c.518A>C
1 paper
NM_001128227.3
p.C214S
c.640T>A
1 paper
NM_001128227.3
p.C214S
c.641G>C
2 papers
NM_001128227.3
p.C203S
c.608G>C
2 papers
NM_001128227.3
p.C203Y
c.608G>A
NM_005476.7
p.C172Y
c.515G>A
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