Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A287V

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_001128227.3
p.A287V
c.860C>T
Surrounding Variants
6 papers
NM_005476.7
p.A256T
c.766G>A
NM_001128227.3
p.A287T
c.859G>A
7 papers
NM_005476.7
p.G257Splc
c.769+4A>G
NM_001128227.3
p.G288Splc
c.862+4A>G
1 paper
NM_005476.7
p.N253delFs
c.757delT
2 papers
NM_001128227.3
p.P283S
c.847C>T
NM_005476.7
p.P252S
c.754C>T
1 paper
NM_005476.7
p.L250L
c.748C>T
5 papers
NM_001128227.3
p.L281M
c.841C>A
NM_005476.7
p.L250M
c.748C>A
1 paper
NM_005476.7
p.L248fs
c.742_743fs
1 paper
NM_005476.7
p.R246_T247insFs
c.737_740dup4
1 paper
NM_005476.7
p.T247S
c.740C>G
1 paper
NM_005476.7
p.T247S
c.739A>T
4 papers
NM_001128227.3
p.R277L
c.830G>T
NM_005476.7
p.R246L
c.737G>T
41 papers
NM_005476.7
p.R246Q
c.737G>A
NM_001128227.3
p.R277Q
c.830G>A
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