Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.V682G

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_005476.7
p.V682G
c.2045T>G
Surrounding Variants
1 paper
NM_005476.7
p.I683V
c.2047A>G
1 paper
NM_005476.7
p.K680_D681insA
c.2038_2042ins3
10 papers
NM_005476.7
p.V679G
c.2036T>G
NM_001128227.3
p.V710G
c.2129T>G
1 paper
NM_005476.7
p.V679I
c.2035G>A
1 paper
NM_001128227.3
p.I709T
c.2126T>C
1 paper
NM_005476.7
p.I678_V679insA
c.2032_2036ins3
1 paper
NM_005476.7
p.A687_L688ins6
c.2059_2063ins18
3 papers
NM_001128227.3
p.A718T
c.2152G>A
1 paper
NM_005476.7
p.H677R
c.2030A>G
1 paper
NM_005476.7
p.A687A
c.2061C>G
1 paper
NM_001128227.3
p.L719fs
c.2155_2156fs
1 paper
NM_001128227.3
p.L719delFs
c.2157delC
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