Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.K3delFs

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.K3delFs
c.7delT
Surrounding Variants
1 paper
NM_005476.7
p.K3_N4ins6
c.7_11ins18
1 paper
NM_005476.7
p.N4delFs
c.10delT
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
1 paper
NM_005476.7
p.G5R
c.13G>C
1 paper
NM_005476.7
p.G5R
c.13G>A
6 papers
NM_001128227.3
p.E33G
c.98A>G
NM_005476.7
p.E2G
c.5A>G
4 papers
NM_001128227.3
p.E33*
c.97G>T
NM_005476.7
p.E2*
c.4G>T
1 paper
NM_005476.7
p.E2Q
c.4G>C
6 papers
NM_005476.7
p.M1insFs
c.2dupT
1 paper
NM_005476.7
p.M1_E2ins2
c.3_4ins6
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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."