Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.R598insFs

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.R598insFs
c.1792_1793dupAG
Surrounding Variants
2 papers
NM_005476.7
p.E599K
c.1795G>A
1 paper
NM_001128227.3
p.R629fs
c.1885_1886fs
12 papers
NM_005476.7
p.A600T
c.1798G>A
NM_001128227.3
p.A631T
c.1891G>A
2 papers
NM_001128227.3
p.A631fs
c.1891_1892fs
7 papers
NM_001128227.3
p.A631V
c.1892C>T
6 papers
NM_005476.7
p.A600E
c.1799C>A
NM_001128227.3
p.A631E
c.1892C>A
2 papers
NM_001128227.3
p.A631delFs
c.1891delC
NM_005476.7
p.A600delFs
c.1798delC
1 paper
NM_001128227.3
p.A631fs
c.1891_1892fs
1 paper
NM_005476.7
p.R598_A600delFs
c.1793_1799del7
1 paper
NM_001128227.3
p.A626G
c.1877C>G
1 paper
NM_005476.7
p.A595delFs
c.1783delC
1 paper
NM_005476.7
p.A595fs
c.1783_1784fs
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