Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.F38S

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.F38S
c.113T>C
Surrounding Variants
1 paper
NM_001128227.3
p.F69delFs
c.207delG
1 paper
NM_005476.7
p.E37A
c.110A>C
5 papers
NM_005476.7
p.E40K
c.118G>A
NM_001128227.3
p.E71K
c.211G>A
10 papers
NM_005476.7
p.P36L
c.107C>T
NM_001128227.3
p.P67L
c.200C>T
1 paper
NM_001128227.3
p.L72R
c.215T>G
1 paper
NM_005476.7
p.E35*
c.103G>T
10 papers
NM_001128227.3
p.E66K
c.196G>A
NM_005476.7
p.E35K
c.103G>A
1 paper
NM_001128227.3
p.E66fs
c.196_197fs
4 papers
NM_005476.7
p.K33R
c.98A>G
3 papers
NM_005476.7
p.I32T
c.95T>C
1 paper
NM_005476.7
p.V44V
c.132G>C
1 paper
NM_005476.7
p.G47C
c.139G>T
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