Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.I32T

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
3 papers
NM_005476.7
p.I32T
c.95T>C
Surrounding Variants
4 papers
NM_005476.7
p.K33R
c.98A>G
1 paper
NM_005476.7
p.E35*
c.103G>T
1 paper
NM_005476.7
p.M29I
c.87G>T
1 paper
NM_005476.7
p.M29I
c.87G>C
10 papers
NM_001128227.3
p.E66K
c.196G>A
NM_005476.7
p.E35K
c.103G>A
1 paper
NM_005476.7
p.M29I
c.87G>A
1 paper
NM_001128227.3
p.E66fs
c.196_197fs
7 papers
NM_001128227.3
p.M60R
c.179T>G
NM_005476.7
p.M29R
c.86T>G
14 papers
NM_005476.7
p.M29T
c.86T>C
NM_001128227.3
p.M60T
c.179T>C
1 paper
NM_001128227.3
p.M60V
c.178A>G
4 papers
NM_001128227.3
p.I59M
c.177C>G
NM_005476.7
p.I28M
c.84C>G
1 paper
NM_005476.7
p.I28insFs
c.82_83dupAT
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