Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.Y273F

GBGT1

139 papers

RefSeq Summary

This gene encodes a glycosyltransferase that plays a role in the synthesis of Forssman glycolipid (FG), a member of the globoseries glycolipid family. Glycolipids such as FG form attachment sites for ...

Pfam Domains

Glyco_transf_6aa 37–347UCSCGlycosyltransferase family 6

Gene Aliases

HGNC Name

globoside alpha-1,3-N-acetylgalactosaminyltransferase 1

HGNC Alias Symbols

UDP-GalNAc; A3GALNT; MGC44848; FS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021996.6
p.Y273F
c.818A>T
Surrounding Variants
1 paper
NM_021996.6
p.V272_Y273insFs
c.816_817insG
2 papers
NM_021996.6
p.T276I
c.827C>T
3 papers
NM_021996.6
p.Q268_V269insFs
c.804_805insG
1 paper
NM_021996.6
p.Q268delFs
c.804delC
1 paper
NM_021996.6
p.G267E
c.800G>A
1 paper
NM_021996.6
p.F265Y
c.794T>A
1 paper
NM_021996.6
p.A263E
c.788C>A
1 paper
NM_021996.6
p.K287K
c.861G>A
3 papers
NM_021996.6
p.D257D
c.771C>T
1 paper
NM_021996.6
p.D257E
c.771C>G
1 paper
NM_021996.6
p.G256E
c.767G>A
2 papers
NM_021996.6
p.G290G
c.870C>T
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