Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.R75Splc

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.R75Splc
c.225-2A>G
Surrounding Variants
2 papers
NM_021996.6
p.L79P
c.236T>C
1 paper
NM_021996.6
p.P84T
c.250C>A
1 paper
NM_021996.6
p.P84L
c.251C>T
1 paper
NM_021996.6
p.A87V
c.260C>T
6 papers
NM_021996.6
p.A87delFs
c.261delC
4 papers
NM_021996.6
p.V90I
c.268G>A
2 papers
NM_021996.6
p.S91T
c.271T>A
1 paper
NM_021996.6
p.F95Y
c.284T>A
2 papers
NM_021996.6
p.P97L
c.290C>T
1 paper
NM_021996.6
p.I103N
c.308T>A
1 paper
NM_021996.6
p.Y104S
c.311A>C
1 paper
NM_021996.6
p.L107insFs
c.320_321insA
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."