Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A636T

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_005476.7
p.A636T
c.1906G>A
Surrounding Variants
1 paper
NM_005476.7
p.A636_K637insA
c.1906_1910ins3
5 papers
NM_005476.7
p.N635K
c.1905T>G
NM_001128227.3
p.N666K
c.1998T>G
5 papers
NM_005476.7
p.N635K
c.1905T>A
NM_001128227.3
p.N666K
c.1998T>A
1 paper
NM_005476.7
p.A636V
c.1907C>T
1 paper
NM_005476.7
p.N635S
c.1904A>G
1 paper
NM_005476.7
p.K637R
c.1910A>G
2 papers
NM_001128227.3
p.A669S
c.2005G>T
4 papers
NM_005476.7
p.A638P
c.1912G>C
NM_001128227.3
p.A669P
c.2005G>C
4 papers
NM_001128227.3
p.Q670*
c.2008C>T
NM_005476.7
p.Q639*
c.1915C>T
1 paper
NM_005476.7
p.L633_G634insA
c.1897_1901ins3
61 papers
NM_005476.7
p.A631V
c.1892C>T
NM_001190383.3
p.A557V
c.1670C>T
NM_001128227.3
p.A662V
c.1985C>T
5 papers
NM_005476.7
p.A631E
c.1892C>A
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