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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUT2

Variant:p.R71C

FUT2

338 papers

RefSeq Summary

This gene is one of two encoding the galactoside 2-L-fucosyltransferase enzyme. The encoded protein is important for the final step in the soluble ABO blood group antigen synthesis pathway. It is also...

Pfam Domains

Glyco_transf_11aa 21–334UCSCGlycosyl transferase family 11

Gene Aliases

HGNC Name

fucosyltransferase 2

HGNC Previous Symbol

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr19:48703167 C>T

NM_000511.6

p.R71C

c.211C>T

Glyco_transf_11

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=6, hom=0)19 overlapping SVs

Surrounding Variants

1 paper

chr19:48703168 G>A

NM_000511.6

p.R71H

c.212G>A

Glyco_transf_11

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=18, hom=0)19 overlapping SVs

3 papers

chr19:48703160 A>G

NM_000511.6

p.A68A

c.204A>G

Glyco_transf_11

Exome: 46.0% (AC=671822, hom=164159)Genome: 44.1% (AC=67009, hom=15739)19 overlapping SVs

1 paper

chr19:48703179 C>T

NM_000511.6

p.Q75*

c.223C>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

1 paper

chr19:48703181 G>C

NM_000511.6

p.Q75H

c.225G>C

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

1 paper

chr19:48703181 G>T

NM_000511.6

p.Q75H

c.225G>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

3 papers

chr19:48703153 T>C

NM_000511.6

p.I66T

c.197T>C

Glyco_transf_11

Exome: 0.0% (AC=6, hom=0)Genome: n/a19 overlapping SVs

2 papers

chr19:48703150 C>T

NM_000511.6

p.T65M

c.194C>T

Glyco_transf_11

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

1 paper

chr19:48703187 C>T

NM_000511.6

p.G77G

c.231C>T

Glyco_transf_11

Exome: 0.0% (AC=127, hom=0)Genome: 0.0% (AC=8, hom=0)19 overlapping SVs

2 papers

chr19:48703188 G>T

NM_000511.6

p.E78*

c.232G>T

Glyco_transf_11

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=13, hom=0)19 overlapping SVs

1 paper

chr19:48703146 T>A

NM_000511.6

p.W64R

c.190T>A

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

1 paper

chr19:48703146 T>C

NM_000511.6

p.W64R

c.190T>C

Glyco_transf_11

Exome: 0.0% (AC=49, hom=0)Genome: 0.0% (AC=9, hom=0)19 overlapping SVs

1 paper

chr19:48703142 G>A

NM_000511.6

p.G62G

c.186G>A

Glyco_transf_11

Exome: 0.0% (AC=2, hom=0)Genome: n/a19 overlapping SVs

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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."