Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.C44S

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
39 papers
NM_001128227.3
p.C44S
c.131G>C
NM_005476.7
p.C13S
c.38G>C
Surrounding Variants
38 papers
NM_001128227.3
p.C44S
c.130T>A
NM_005476.7
p.C13S
c.37T>A
1 paper
NM_005476.7
p.V12F
c.34G>T
1 paper
NM_005476.7
p.A15P
c.43G>C
8 papers
NM_001128227.3
p.R42Q
c.125G>A
NM_005476.7
p.R11Q
c.32G>A
1 paper
NM_005476.7
p.A15V
c.44C>T
16 papers
NM_005476.7
p.R11W
c.31C>T
NM_001128227.3
p.R42W
c.124C>T
1 paper
NM_005476.7
p.T16insFs
c.47dupC
1 paper
NM_005476.7
p.K9delFs
c.26_27delCT
1 paper
NM_005476.7
p.K9ins5
c.25_26ins15
18 papers
NM_005476.7
p.R8*
c.22C>T
NM_001128227.3
p.R39*
c.115C>T
1 paper
NM_005476.7
p.R8R
c.22C>A
1 paper
NM_005476.7
p.R19fs
c.55_56fs
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