Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.R246Q

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
41 papers
NM_005476.7
p.R246Q
c.737G>A
NM_001128227.3
p.R277Q
c.830G>A
Surrounding Variants
4 papers
NM_001128227.3
p.R277L
c.830G>T
NM_005476.7
p.R246L
c.737G>T
28 papers
NM_005476.7
p.R246W
c.736C>T
NM_001128227.3
p.R277W
c.829C>T
1 paper
NM_001128227.3
p.R277G
c.829C>G
1 paper
NM_005476.7
p.K245delFs
c.733delT
1 paper
NM_005476.7
p.T247S
c.739A>T
1 paper
NM_005476.7
p.T247S
c.740C>G
1 paper
NM_005476.7
p.R246_T247insFs
c.737_740dup4
4 papers
NM_001128227.3
p.K276E
c.826A>G
NM_005476.7
p.K245E
c.733A>G
1 paper
NM_005476.7
p.L248fs
c.742_743fs
3 papers
NM_005476.7
p.N244I
c.731A>T
1 paper
NM_005476.7
p.F243insFs
c.729dupT
1 paper
NM_001128227.3
p.I272_F274delFs
c.816_820del5
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