Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H132Q

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
15 papers
NM_005476.7
p.H132Q
c.396C>G
NM_001128227.3
p.H163Q
c.489C>G
Surrounding Variants
15 papers
NM_005476.7
p.H132Q
c.396C>A
NM_001128227.3
p.H163Q
c.489C>A
6 papers
NM_001128227.3
p.I164T
c.491T>C
NM_005476.7
p.I133T
c.398T>C
2 papers
NM_005476.7
p.H132Y
c.394C>T
2 papers
NM_005476.7
p.I133insFs
c.397_398dupAT
NM_001128227.3
p.I164insFs
c.490_491dupAT
1 paper
NM_001128227.3
p.E165fs
c.493_494fs
1 paper
NM_005476.7
p.E134A
c.401A>C
1 paper
NM_005476.7
p.E134fs
c.400_401fs
1 paper
NM_005476.7
p.I130T
c.389T>C
2 papers
NM_005476.7
p.I130delFs
c.388delT
1 paper
NM_005476.7
p.G135C
c.403G>T
1 paper
NM_005476.7
p.G135S
c.403G>A
13 papers
NM_005476.7
p.G135V
c.404G>T
NM_001128227.3
p.G166V
c.497G>T
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