Varaico: Literature-Extracted Genetic Variants

Gene:GBGT1
Variant:p.I342L

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.I342L
c.1024A>C
Surrounding Variants
1 paper
NM_021996.6
p.I342I
c.1026C>A
1 paper
NM_021996.6
p.C344W
c.1032C>G
3 papers
NM_021996.6
p.R346G
c.1036A>G
2 papers
NM_021996.6
p.L332L
c.996G>A
1 paper
NM_021996.6
p.R323del1
c.967_968delCCT
1 paper
NM_021996.6
p.D322G
c.965A>G
1 paper
NM_021996.6
p.E317A
c.950A>C
2 papers
NM_021996.6
p.E317Q
c.949G>C
1 paper
NM_021996.6
p.S311C
c.932C>G
1 paper
NM_021996.6
p.P310P
c.930G>A
1 paper
NM_021996.6
p.N308H
c.922A>C
1 paper
NM_021996.6
p.H304Y
c.910C>T
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