Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.N6K

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
6 papers
NM_005476.7
p.N6K
c.18T>A
Surrounding Variants
18 papers
NM_005476.7
p.R8*
c.22C>T
NM_001128227.3
p.R39*
c.115C>T
1 paper
NM_005476.7
p.R8R
c.22C>A
1 paper
NM_005476.7
p.G5R
c.13G>C
1 paper
NM_005476.7
p.G5R
c.13G>A
1 paper
NM_005476.7
p.N4delFs
c.10delT
1 paper
NM_005476.7
p.K9ins5
c.25_26ins15
1 paper
NM_005476.7
p.K3delFs
c.7delT
1 paper
NM_005476.7
p.K9delFs
c.26_27delCT
1 paper
NM_005476.7
p.K3_N4ins6
c.7_11ins18
2 papers
NM_001128227.3
p.E33D
c.99G>T
3 papers
NM_001128227.3
p.E33D
c.99G>C
NM_005476.7
p.E2D
c.6G>C
1 paper
NM_005476.7
p.E2E
c.6G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."