Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G86Splc

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.G86Splc
c.258-2A>G
Surrounding Variants
3 papers
NM_001128227.3
p.G86R
c.256G>C
3 papers
NM_001128227.3
p.G86R
c.256G>A
3 papers
NM_001128227.3
p.G86Splc
c.258-8G>A
NM_005476.7
p.G55Splc
c.165-8G>A
2 papers
NM_001128227.3
p.T88I
c.263C>T
NM_005476.7
p.T57I
c.170C>T
8 papers
NM_001128227.3
p.R90*
c.268C>T
NM_005476.7
p.R59*
c.175C>T
6 papers
NM_001128227.3
p.M91V
c.271A>G
NM_005476.7
p.M60V
c.178A>G
5 papers
NM_005476.7
p.M60R
c.179T>G
5 papers
NM_005476.7
p.M60T
c.179T>C
1 paper
NM_005476.7
p.E62A
c.185A>C
2 papers
NM_001128227.3
p.D96V
c.287A>T
3 papers
NM_001128227.3
p.F97V
c.289T>G
1 paper
NM_005476.7
p.F66C
c.197T>G
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