Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.C594Y

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.C594Y
c.1781G>A
Surrounding Variants
2 papers
NM_001128227.3
p.F593S
c.1778T>C
1 paper
NM_005476.7
p.A565T
c.1693G>A
1 paper
NM_005476.7
p.S561C
c.1682C>G
2 papers
NM_001128227.3
p.E597*
c.1789G>T
3 papers
NM_005476.7
p.G559A
c.1676G>C
NM_001128227.3
p.G590A
c.1769G>C
19 papers
NM_005476.7
p.G559R
c.1675G>C
NM_001128227.3
p.G590R
c.1768G>C
20 papers
NM_005476.7
p.G559R
c.1675G>A
NM_001128227.3
p.G590R
c.1768G>A
6 papers
NM_005476.7
p.G568S
c.1702G>A
NM_001128227.3
p.G599S
c.1795G>A
4 papers
NM_001128227.3
p.G599V
c.1796G>T
NM_005476.7
p.G568V
c.1703G>T
1 paper
NM_005476.7
p.H569N
c.1705C>A
7 papers
NM_005476.7
p.I557T
c.1670T>C
NM_001128227.3
p.I588T
c.1763T>C
9 papers
NM_005476.7
p.L556S
c.1667T>C
NM_001128227.3
p.L587S
c.1760T>C
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