Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.I687_L688ins6

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_001128227.3
p.I687_L688ins6
c.2059_2063ins18
Surrounding Variants
8 papers
NM_005476.7
p.I656N
c.1967T>A
NM_001128227.3
p.I687N
c.2060T>A
2 papers
NM_005476.7
p.L657delFs
c.1969delG
2 papers
NM_001128227.3
p.V685A
c.2054T>C
1 paper
NM_005476.7
p.H658Y
c.1972C>T
1 paper
NM_001128227.3
p.H689L
c.2066A>T
2 papers
NM_005476.7
p.V653G
c.1958T>G
1 paper
NM_001128227.3
p.V684fs
c.2050_2051fs
1 paper
NM_001128227.3
p.T690A
c.2068A>G
2 papers
NM_001128227.3
p.G683E
c.2048G>A
1 paper
NM_005476.7
p.T659T
c.1977C>G
1 paper
NM_001128227.3
p.L682delFs
c.2046delA
4 papers
NM_001128227.3
p.L682R
c.2045T>G
NM_005476.7
p.L651R
c.1952T>G
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