Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G78D

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.G78D
c.233G>A
NM_005476.7
p.G47D
c.140G>A
Surrounding Variants
1 paper
NM_005476.7
p.G47C
c.139G>T
1 paper
NM_005476.7
p.S48A
c.142T>G
1 paper
NM_005476.7
p.H49Y
c.145C>T
1 paper
NM_005476.7
p.H49L
c.146A>T
1 paper
NM_005476.7
p.H49delFs
c.146delT
1 paper
NM_005476.7
p.V44V
c.132G>C
1 paper
NM_005476.7
p.L50P
c.149T>C
6 papers
NM_005476.7
p.I51M
c.153A>G
NM_001128227.3
p.I82M
c.246A>G
5 papers
NM_005476.7
p.D52G
c.155A>G
3 papers
NM_001128227.3
p.D84H
c.250G>C
1 paper
NM_001128227.3
p.L72R
c.215T>G
5 papers
NM_005476.7
p.E40K
c.118G>A
NM_001128227.3
p.E71K
c.211G>A
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