Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A631delFs

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.A631delFs
c.1891delC
Surrounding Variants
61 papers
NM_005476.7
p.A631V
c.1892C>T
NM_001190383.3
p.A557V
c.1670C>T
NM_001128227.3
p.A662V
c.1985C>T
5 papers
NM_005476.7
p.A631E
c.1892C>A
16 papers
NM_005476.7
p.A631T
c.1891G>A
NM_001128227.3
p.A662T
c.1984G>A
2 papers
NM_005476.7
p.A631fs
c.1891_1892fs
2 papers
NM_005476.7
p.A630fs
c.1888_1889fs
1 paper
NM_005476.7
p.A630V
c.1889C>T
2 papers
NM_001128227.3
p.A661fs
c.1981_1982fs
NM_005476.7
p.A630fs
c.1888_1889fs
2 papers
NM_005476.7
p.A630S
c.1888G>T
1 paper
NM_001128227.3
p.A661P
c.1981G>C
18 papers
NM_005476.7
p.A630T
c.1888G>A
NM_001128227.3
p.A661T
c.1981G>A
1 paper
NM_001128227.3
p.Q660delFs
c.1980delT
1 paper
NM_005476.7
p.L633_G634insA
c.1897_1901ins3
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