Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.T114M

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
3 papers
NM_021996.6
p.T114M
c.341C>T
Surrounding Variants
1 paper
NM_021996.6
p.F116S
c.347T>C
3 papers
NM_021996.6
p.I111T
c.332T>C
1 paper
NM_021996.6
p.A117A
c.351C>T
1 paper
NM_021996.6
p.G119V
c.356G>T
1 paper
NM_021996.6
p.G119A
c.356G>C
1 paper
NM_021996.6
p.L107insFs
c.320_321insA
1 paper
NM_021996.6
p.Y104S
c.311A>C
1 paper
NM_021996.6
p.I103N
c.308T>A
2 papers
NM_021996.6
p.P97L
c.290C>T
1 paper
NM_021996.6
p.F95Y
c.284T>A
2 papers
NM_021996.6
p.S91T
c.271T>A
4 papers
NM_021996.6
p.V90I
c.268G>A
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