Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBGT1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 154 variants

10 papers

chr9:133153734 C>T

NM_021996.6

p.R296Q

c.887G>A

Glyco_transf_6

Exome: 0.0% (AC=103, hom=0)Genome: 0.0% (AC=8, hom=0)3 overlapping SVs

6 papers

chr9:133162355 G>A

NM_021996.6

p.L20F

c.58C>T

Exome: 10.6% (AC=116128, hom=16386)Genome: 22.9% (AC=33932, hom=4709)4 overlapping SVs

6 papers

chr9:133155275 GC>G

NM_021996.6

p.A87delFs

c.261delC

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

6 papers

chr9:133154258 G>C

NM_021996.6

p.Y121*

c.363C>G

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

6 papers

chr9:133154258 G>T

NM_021996.6

p.Y121*

c.363C>A

Glyco_transf_6

Exome: 6.5% (AC=89199, hom=3179)Genome: 6.0% (AC=9106, hom=323)3 overlapping SVs

6 papers

chr9:133153893 C>T

NM_021996.6

p.R243H

c.728G>A

Glyco_transf_6

Exome: 0.1% (AC=1184, hom=3)Genome: 0.1% (AC=102, hom=0)3 overlapping SVs

5 papers

chr9:133155928 T>C

NM_021996.6

p.Y66C

c.197A>G

Glyco_transf_6

Exome: 0.4% (AC=6347, hom=14)Genome: 0.3% (AC=439, hom=0)3 overlapping SVs

4 papers

chr9:133155269 C>T

NM_021996.6

p.V90I

c.268G>A

Glyco_transf_6

Exome: 0.0% (AC=445, hom=1)Genome: 0.0% (AC=43, hom=0)3 overlapping SVs

4 papers

chr9:133153914 C>T

NM_021996.6

p.R236H

c.707G>A

Glyco_transf_6

Exome: 0.2% (AC=3068, hom=36)Genome: 0.3% (AC=389, hom=3)3 overlapping SVs

3 papers

chr9:133162403 G>A

NM_021996.6

p.R4W

c.10C>T

Exome: 0.1% (AC=806, hom=16)Genome: 0.0% (AC=69, hom=1)4 overlapping SVs

3 papers

chr9:133155205 A>G

NM_021996.6

p.I111T

c.332T>C

Glyco_transf_6

Exome: 0.1% (AC=770, hom=0)Genome: 0.0% (AC=32, hom=0)3 overlapping SVs

3 papers

chr9:133155196 G>A

NM_021996.6

p.T114M

c.341C>T

Glyco_transf_6

Exome: 0.0% (AC=543, hom=4)Genome: 0.3% (AC=504, hom=5)3 overlapping SVs

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."