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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBGT1

Variant:p.R236H

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

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

Surrounding Variants

1 paper

chr9:133153915 G>A

NM_021996.6

p.R236C

c.706C>T

Glyco_transf_6

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=8, hom=0)3 overlapping SVs

1 paper

chr9:133153908 T>G

NM_021996.6

p.Q238P

c.713A>C

Glyco_transf_6

Exome: 0.1% (AC=821, hom=6)Genome: 0.5% (AC=824, hom=5)3 overlapping SVs

1 paper

chr9:133153921 C>A

NM_021996.6

p.V234F

c.700G>T

Glyco_transf_6

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

2 papers

chr9:133153921 C>G

NM_021996.6

p.V234L

c.700G>C

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

1 paper

chr9:133153925 G>A

NM_021996.6

p.Y232Y

c.696C>T

Glyco_transf_6

Exome: 0.3% (AC=4121, hom=140)Genome: 2.5% (AC=3824, hom=163)3 overlapping SVs

1 paper

chr9:133153932 C>A

NM_021996.6

p.S230I

c.689G>T

Glyco_transf_6

Exome: 0.0% (AC=2, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr9:133153933 T>C

NM_021996.6

p.S230G

c.688A>G

Glyco_transf_6

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

1 paper

chr9:133153894 G>A

NM_021996.6

p.R243C

c.727C>T

Glyco_transf_6

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr9:133153894 G>T

NM_021996.6

p.R243S

c.727C>A

Glyco_transf_6

Exome: 0.0% (AC=3, hom=0)Genome: n/a3 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

1 paper

chr9:133153891 T>A

NM_021996.6

p.R244W

c.730A>T

Glyco_transf_6

exact variant not in gnomAD3 overlapping SVs

1 paper

chr9:133153890 C>T

NM_021996.6

p.R244K

c.731G>A

Glyco_transf_6

Exome: 0.0% (AC=2, hom=0)Genome: n/a3 overlapping SVs

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