Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.L133P

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.L133P
c.398T>C
Surrounding Variants
11 papers
NM_001128227.3
p.R132H
c.395G>A
NM_005476.7
p.R101H
c.302G>A
1 paper
NM_005476.7
p.K103T
c.308A>C
7 papers
NM_001128227.3
p.R132C
c.394C>T
NM_005476.7
p.R101C
c.301C>T
1 paper
NM_005476.7
p.N100delFs
c.298_299delTT
1 paper
NM_001128227.3
p.L130insFs
c.389dupT
1 paper
NM_005476.7
p.D105N
c.313G>A
2 papers
NM_001128227.3
p.D136G
c.407A>G
NM_005476.7
p.D105G
c.314A>G
2 papers
NM_001128227.3
p.I137F
c.409A>T
11 papers
NM_001128227.3
p.I137T
c.410T>C
NM_005476.7
p.I106T
c.317T>C
1 paper
NM_005476.7
p.D105delFs
c.314_315delAT
1 paper
NM_005476.7
p.M107T
c.320T>C
1 paper
NM_001128227.3
p.D128insFs
c.383_384insT
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