Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.E133D

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.E133D
c.399G>T
Surrounding Variants
1 paper
NM_021996.6
p.E133D
c.399G>C
3 papers
NM_021996.6
p.E133K
c.397G>A
1 paper
NM_021996.6
p.F128L
c.384C>A
2 papers
NM_021996.6
p.G139R
c.415G>C
2 papers
NM_021996.6
p.G139R
c.415G>A
1 paper
NM_021996.6
p.F128I
c.382T>A
1 paper
NM_021996.6
p.Q126Q
c.378G>A
1 paper
NM_021996.6
p.Q126*
c.376C>T
2 papers
NM_021996.6
p.V142A
c.425T>C
1 paper
NM_021996.6
p.Y145C
c.434A>G
6 papers
NM_021996.6
p.Y121*
c.363C>G
6 papers
NM_021996.6
p.Y121*
c.363C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."