Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.Q63_F66insFs

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_005476.7
p.Q63_F66insFs
c.188_197dup10
Surrounding Variants
1 paper
NM_005476.7
p.F66C
c.197T>G
3 papers
NM_001128227.3
p.F97Y
c.290T>A
NM_005476.7
p.F66Y
c.197T>A
3 papers
NM_001128227.3
p.F97V
c.289T>G
2 papers
NM_001128227.3
p.D96V
c.287A>T
9 papers
NM_001128227.3
p.R102W
c.304A>T
NM_005476.7
p.R71W
c.211A>T
1 paper
NM_005476.7
p.E62A
c.185A>C
1 paper
NM_005476.7
p.L72R
c.215T>G
5 papers
NM_005476.7
p.M60R
c.179T>G
5 papers
NM_005476.7
p.M60T
c.179T>C
6 papers
NM_001128227.3
p.M91V
c.271A>G
NM_005476.7
p.M60V
c.178A>G
8 papers
NM_001128227.3
p.R90*
c.268C>T
NM_005476.7
p.R59*
c.175C>T
2 papers
NM_001128227.3
p.I106T
c.317T>C
NM_005476.7
p.I75T
c.224T>C
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