Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
1 paper
NM_021996.6
p.M1I
c.3G>T
1 paper
NM_021996.6
p.M1I
c.3G>A
1 paper
NM_021996.6
p.M1T
c.2T>C
1 paper
NM_021996.6
p.H2D
c.4C>G
1 paper
NM_021996.6
p.R3C
c.7C>T
2 papers
NM_021996.6
p.R3S
c.7C>A
1 paper
NM_021996.6
p.R3H
c.8G>A
3 papers
NM_021996.6
p.R4W
c.10C>T
2 papers
NM_021996.6
p.A16T
c.46G>A
1 paper
NM_021996.6
p.A16V
c.47C>T
1 paper
NM_021996.6
p.A16A
c.48G>A
1 paper
NM_021996.6
p.G17V
c.50G>T
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