Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H228_S229ins0

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.H228_S229ins0
c.682_687dup6
Surrounding Variants
1 paper
NM_005476.7
p.S229_I230ins2
c.687_688ins6
3 papers
NM_005476.7
p.K231*
c.691A>T
1 paper
NM_005476.7
p.K231E
c.691A>G
1 paper
NM_001128227.3
p.H259fs
c.775_776fs
3 papers
NM_001128227.3
p.M263fs
c.787_788fs
1 paper
NM_005476.7
p.H228Y
c.682C>T
1 paper
NM_005476.7
p.M232V
c.694A>G
1 paper
NM_001128227.3
p.M263T
c.788T>C
2 papers
NM_001128227.3
p.M263delFs
c.787delT
2 papers
NM_005476.7
p.K227insFs
c.680dupA
1 paper
NM_005476.7
p.K227*
c.679A>T
1 paper
NM_005476.7
p.M232_F233insFs
c.694_697dup4
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