Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.I130fs

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
2 papers
NM_005476.7
p.I130fs
c.388_389fs
NM_001128227.3
p.I161fs
c.481_482fs
Surrounding Variants
1 paper
NM_005476.7
p.I130T
c.389T>C
2 papers
NM_005476.7
p.I130delFs
c.388delT
1 paper
NM_005476.7
p.R129fs
c.385_386fs
17 papers
NM_005476.7
p.R129Q
c.386G>A
NM_001128227.3
p.R160Q
c.479G>A
14 papers
NM_005476.7
p.R129*
c.385C>T
NM_001128227.3
p.R160*
c.478C>T
2 papers
NM_001128227.3
p.R160fs
c.478_479fs
6 papers
NM_005476.7
p.I128insFs
c.383_384insT
NM_001128227.3
p.I159insFs
c.476_477insT
1 paper
NM_005476.7
p.I128fs
c.382_383fs
2 papers
NM_005476.7
p.H132Y
c.394C>T
1 paper
NM_005476.7
p.I128F
c.382A>T
15 papers
NM_005476.7
p.H132Q
c.396C>G
NM_001128227.3
p.H163Q
c.489C>G
15 papers
NM_005476.7
p.H132Q
c.396C>A
NM_001128227.3
p.H163Q
c.489C>A
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