Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H569N

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.H569N
c.1705C>A
Surrounding Variants
4 papers
NM_001128227.3
p.G599V
c.1796G>T
NM_005476.7
p.G568V
c.1703G>T
6 papers
NM_005476.7
p.G568S
c.1702G>A
NM_001128227.3
p.G599S
c.1795G>A
1 paper
NM_001128227.3
p.L601H
c.1802T>A
1 paper
NM_005476.7
p.G568_L570delFs
c.1702_1709del8
1 paper
NM_005476.7
p.V571I
c.1711G>A
134 papers
NM_001128227.3
p.V603L
c.1807G>T
NM_005476.7
p.V572L
c.1714G>T
2 papers
NM_001128227.3
p.E597*
c.1789G>T
137 papers
NM_001128227.3
p.V603L
c.1807G>C
NM_005476.7
p.V572L
c.1714G>C
1 paper
NM_005476.7
p.V572A
c.1715T>C
2 papers
NM_001128227.3
p.V602_V603del1
c.1806_1808delACA
NM_005476.7
p.V571_V572del1
c.1713_1715delACA
5 papers
NM_001128227.3
p.V603del1
c.1807_1808delCAC
NM_005476.7
p.V572del1
c.1714_1715delCAC
1 paper
NM_005476.7
p.A565T
c.1693G>A
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