Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.R163Q

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.R163Q
c.488G>A
Surrounding Variants
1 paper
NM_021996.6
p.P161L
c.482C>T
1 paper
NM_021996.6
p.S166N
c.497G>A
1 paper
NM_021996.6
p.G160D
c.479G>A
2 papers
NM_021996.6
p.V157I
c.469G>A
1 paper
NM_021996.6
p.G172A
c.515G>C
2 papers
NM_021996.6
p.G172D
c.515G>A
1 paper
NM_021996.6
p.H173R
c.518A>G
1 paper
NM_021996.6
p.W176*
c.527G>A
1 paper
NM_021996.6
p.E177K
c.529G>A
2 papers
NM_021996.6
p.E178E
c.534G>A
1 paper
NM_021996.6
p.T179I
c.536C>T
1 paper
NM_021996.6
p.Y145C
c.434A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."