Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H188delFs

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.H188delFs
c.563_564delAT
NM_005476.7
p.H157delFs
c.470_471delAT
Surrounding Variants
3 papers
NM_005476.7
p.H157fs
c.469_470fs
NM_001128227.3
p.H188fs
c.562_563fs
1 paper
NM_005476.7
p.H157insFs
c.469dupC
9 papers
NM_001128227.3
p.H188Y
c.562C>T
NM_005476.7
p.H157Y
c.469C>T
1 paper
NM_005476.7
p.C159insFs
c.476_477insT
2 papers
NM_001128227.3
p.Y187C
c.560A>G
8 papers
NM_005476.7
p.Y156H
c.466T>C
NM_001128227.3
p.Y187H
c.559T>C
9 papers
NM_005476.7
p.C160Y
c.479G>A
3 papers
NM_001128227.3
p.H186R
c.557A>G
1 paper
NM_005476.7
p.T161delFs
c.481delT
18 papers
NM_005476.7
p.R162C
c.484C>T
NM_001128227.3
p.R193C
c.577C>T
3 papers
NM_005476.7
p.K152insFs
c.455_456insC
2 papers
NM_005476.7
p.A164insFs
c.490_491dupGC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."