Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.Y217*

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_001128227.3
p.Y217*
c.651T>G
Surrounding Variants
2 papers
NM_001128227.3
p.Y217*
c.651T>A
4 papers
NM_005476.7
p.D187N
c.559G>A
9 papers
NM_001128227.3
p.Y217C
c.650A>G
NM_005476.7
p.Y186C
c.557A>G
1 paper
NM_005476.7
p.Y186S
c.557A>C
13 papers
NM_001128227.3
p.Y217H
c.649T>C
NM_005476.7
p.Y186H
c.556T>C
7 papers
NM_001128227.3
p.D218G
c.653A>G
NM_005476.7
p.D187G
c.560A>G
1 paper
NM_005476.7
p.K188E
c.562A>G
1 paper
NM_001128227.3
p.C214S
c.641G>C
1 paper
NM_001128227.3
p.L221I
c.661C>A
1 paper
NM_001128227.3
p.C214S
c.640T>A
1 paper
NM_005476.7
p.S191P
c.571T>C
1 paper
NM_005476.7
p.S191*
c.572C>G
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