Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.P69P

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.P69P
c.207C>A
Surrounding Variants
1 paper
NM_021996.6
p.P69S
c.205C>T
1 paper
NM_021996.6
p.K70K
c.210G>A
1 paper
NM_021996.6
p.P67T
c.199C>A
5 papers
NM_021996.6
p.Y66C
c.197A>G
1 paper
NM_021996.6
p.H74Y
c.220C>T
1 paper
NM_021996.6
p.S64*
c.191C>G
1 paper
NM_021996.6
p.S64*
c.191C>A
1 paper
NM_021996.6
p.R75K
c.224G>A
1 paper
NM_021996.6
p.W63*
c.189G>A
1 paper
NM_021996.6
p.W63*
c.188G>A
2 papers
NM_021996.6
p.W63*
c.188G>A
1 paper
NM_021996.6
p.V62V
c.186A>T
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