Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.L237delFs

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.L237delFs
c.710delA
Surrounding Variants
2 papers
NM_001128227.3
p.L268L
c.804G>A
3 papers
NM_001128227.3
p.D269fs
c.805_806fs
NM_005476.7
p.D238fs
c.712_713fs
1 paper
NM_005476.7
p.D238Y
c.712G>T
1 paper
NM_001128227.3
p.D269N
c.805G>A
2 papers
NM_001128227.3
p.D269delFs
c.805delC
NM_005476.7
p.D238delFs
c.712delC
2 papers
NM_005476.7
p.A239T
c.715G>A
1 paper
NM_005476.7
p.A239V
c.716C>T
1 paper
NM_005476.7
p.L235_T236delins
c.705_706delinsCT
1 paper
NM_005476.7
p.L237_A239del3
c.709_716del9
3 papers
NM_001128227.3
p.L271H
c.812T>A
13 papers
NM_005476.7
p.I241S
c.722T>G
NM_001128227.3
p.I272S
c.815T>G
1 paper
NM_005476.7
p.M232_F233insFs
c.694_697dup4
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