Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H167Y

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_005476.7
p.H167Y
c.499C>T
Surrounding Variants
1 paper
NM_001128227.3
p.E196K
c.586G>A
2 papers
NM_005476.7
p.E165fs
c.493_494fs
2 papers
NM_005476.7
p.A164insFs
c.490_491dupGC
1 paper
NM_001128227.3
p.I200I
c.600A>T
1 paper
NM_001128227.3
p.M202L
c.604A>T
12 papers
NM_005476.7
p.M171V
c.511A>G
NM_001128227.3
p.M202V
c.604A>G
1 paper
NM_001128227.3
p.M202L
c.604A>C
1 paper
NM_001128227.3
p.M202T
c.605T>C
1 paper
NM_001128227.3
p.C203R
c.607T>C
2 papers
NM_001128227.3
p.C203S
c.607T>A
18 papers
NM_005476.7
p.R162C
c.484C>T
NM_001128227.3
p.R193C
c.577C>T
2 papers
NM_001128227.3
p.C203S
c.608G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."