Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.T152_S153insFs

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.T152_S153insFs
c.456_457insC
Surrounding Variants
1 paper
NM_001128227.3
p.S153fs
c.457_458fs
1 paper
NM_005476.7
p.A120S
c.358G>T
2 papers
NM_005476.7
p.A120P
c.358G>C
3 papers
NM_005476.7
p.A120T
c.358G>A
2 papers
NM_001128227.3
p.A149V
c.446C>T
1 paper
NM_001128227.3
p.M157V
c.469A>G
1 paper
NM_005476.7
p.L117L
c.349C>T
1 paper
NM_001128227.3
p.A147D
c.440C>A
1 paper
NM_005476.7
p.I128F
c.382A>T
1 paper
NM_005476.7
p.D115N
c.343G>A
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
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