Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.H190R

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.H190R
c.569A>G
Surrounding Variants
1 paper
NM_021996.6
p.Q189*
c.565C>T
1 paper
NM_021996.6
p.Q189E
c.565C>G
1 paper
NM_021996.6
p.I187N
c.560T>A
2 papers
NM_021996.6
p.K193K
c.579G>A
2 papers
NM_021996.6
p.T186A
c.556A>G
1 paper
NM_021996.6
p.H196Y
c.586C>T
1 paper
NM_021996.6
p.M184V
c.550A>G
1 paper
NM_021996.6
p.R197W
c.589C>T
1 paper
NM_021996.6
p.R197Q
c.590G>A
1 paper
NM_021996.6
p.E198Q
c.592G>C
1 paper
NM_021996.6
p.D200N
c.598G>A
1 paper
NM_021996.6
p.Y201H
c.601T>C
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