Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.S614insFs

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_001128227.3
p.S614insFs
c.1841dupG
Surrounding Variants
2 papers
NM_001128227.3
p.S614fs
c.1840_1841fs
2 papers
NM_001128227.3
p.G613E
c.1838G>A
6 papers
NM_001128227.3
p.C612F
c.1835G>T
NM_005476.7
p.C581F
c.1742G>T
1 paper
NM_001128227.3
p.C617fs
c.1849_1850fs
2 papers
NM_001128227.3
p.C612G
c.1834T>G
4 papers
NM_001128227.3
p.C612R
c.1834T>C
NM_005476.7
p.C581R
c.1741T>C
5 papers
NM_001128227.3
p.C617Y
c.1850G>A
NM_005476.7
p.C586Y
c.1757G>A
1 paper
NM_005476.7
p.C586*
c.1758C>A
NM_001128227.3
p.C617*
c.1851C>A
1 paper
NM_001128227.3
p.C617delFs
c.1850delC
1 paper
NM_005476.7
p.I587insFs
c.1760_1761ins4
44 papers
NM_005476.7
p.I587T
c.1760T>C
NM_001128227.3
p.I618T
c.1853T>C
3 papers
NM_005476.7
p.I587N
c.1760T>A
NM_001128227.3
p.I618N
c.1853T>A
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