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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBGT1

Variant:p.R296Q

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

Selected Variant

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

Surrounding Variants

2 papers

chr9:133153735 G>A

NM_021996.6

p.R296W

c.886C>T

Glyco_transf_6

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=44, hom=0)3 overlapping SVs

1 paper

chr9:133153732 C>G

NM_021996.6

p.E297Q

c.889G>C

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

1 paper

chr9:133153732 C>T

NM_021996.6

p.E297K

c.889G>A

Glyco_transf_6

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

1 paper

chr9:133153736 C>T

NM_021996.6

p.W295*

c.885G>A

Glyco_transf_6

Exome: n/aGenome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr9:133153743 G>T

NM_021996.6

p.A293D

c.878C>A

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

2 papers

chr9:133153748 G>C

NM_021996.6

p.I291M

c.873C>G

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

1 paper

chr9:133153750 T>A

NM_021996.6

p.I291F

c.871A>T

Glyco_transf_6

Exome: 0.1% (AC=1346, hom=15)Genome: 0.9% (AC=1343, hom=19)3 overlapping SVs

2 papers

chr9:133153751 G>A

NM_021996.6

p.G290G

c.870C>T

Glyco_transf_6

Exome: 6.4% (AC=93813, hom=3276)Genome: 5.8% (AC=8817, hom=300)3 overlapping SVs

1 paper

chr9:133153711 G>A

NM_021996.6

p.H304Y

c.910C>T

Glyco_transf_6

Exome: 0.0% (AC=9, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr9:133153760 C>T

NM_021996.6

p.K287K

c.861G>A

Glyco_transf_6

Exome: 0.0% (AC=1, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr9:133153699 T>G

NM_021996.6

p.N308H

c.922A>C

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

1 paper

chr9:133153691 C>T

NM_021996.6

p.P310P

c.930G>A

Glyco_transf_6

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=6, hom=0)3 overlapping SVs

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