Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.C612R

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
4 papers
NM_001128227.3
p.C612R
c.1834T>C
NM_005476.7
p.C581R
c.1741T>C
Surrounding Variants
2 papers
NM_001128227.3
p.C612G
c.1834T>G
6 papers
NM_001128227.3
p.C612F
c.1835G>T
NM_005476.7
p.C581F
c.1742G>T
1 paper
NM_005476.7
p.C579delFs
c.1736delC
2 papers
NM_001128227.3
p.G613E
c.1838G>A
4 papers
NM_005476.7
p.C579Y
c.1736G>A
NM_001128227.3
p.C610Y
c.1829G>A
2 papers
NM_001128227.3
p.S614fs
c.1840_1841fs
1 paper
NM_001128227.3
p.S614insFs
c.1841dupG
1 paper
NM_005476.7
p.D578Y
c.1732G>T
2 papers
NM_005476.7
p.D578N
c.1732G>A
4 papers
NM_001128227.3
p.P608T
c.1822C>A
NM_005476.7
p.P577T
c.1729C>A
2 papers
NM_005476.7
p.G576delFs
c.1727delC
1 paper
NM_005476.7
p.G576V
c.1727G>T
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