Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.M743T

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
178 papers
NM_001128227.3
p.M743T
c.2228T>C
NM_005476.7
p.M712T
c.2135T>C
NM_001190384.3
p.M602T
c.1805T>C
Surrounding Variants
1 paper
NM_001128227.3
p.M743fs
c.2227_2228fs
1 paper
NM_001128227.3
p.S742insFs
c.2226dupC
1 paper
NM_005476.7
p.V713L
c.2137G>C
2 papers
NM_001128227.3
p.V744I
c.2230G>A
NM_005476.7
p.V713I
c.2137G>A
1 paper
NM_005476.7
p.V713A
c.2138T>C
1 paper
NM_001128227.3
p.A740T
c.2218G>A
22 papers
NM_005476.7
p.G708S
c.2122G>A
NM_001128227.3
p.G739S
c.2215G>A
1 paper
NM_005476.7
p.L707P
c.2120T>C
1 paper
NM_005476.7
p.A705fs
c.2113_2114fs
1 paper
NM_005476.7
p.P704delFs
c.2112delG
1 paper
NM_001128227.3
p.A736fs
c.2206_2207fs
3 papers
NM_001128227.3
p.P735R
c.2204C>G
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