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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUT2

Variant:p.L32L

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

1 paper

chr19:48703050 C>T

NM_000511.6

p.L32L

c.94C>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

3 papers

chr19:48703047 C>T

NM_000511.6

p.R31W

c.91C>T

Glyco_transf_11

Exome: 0.0% (AC=78, hom=3)Genome: 0.0% (AC=11, hom=0)19 overlapping SVs

1 paper

chr19:48703055 G>T

NM_000511.6

p.A33A

c.99G>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

1 paper

chr19:48703057 A>G

NM_000511.6

p.K34R

c.101A>G

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

3 papers

chr19:48703041 C>T

NM_000511.6

p.Q29*

c.85C>T

Glyco_transf_11

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=32, hom=0)19 overlapping SVs

1 paper

chr19:48703038 G>A

NM_000511.6

p.V28I

c.82G>A

Glyco_transf_11

Exome: 0.0% (AC=82, hom=1)Genome: 0.0% (AC=7, hom=0)19 overlapping SVs

3 papers

chr19:48703036 A>T

NM_000511.6

p.H27L

c.80A>T

Glyco_transf_11

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=2, hom=0)19 overlapping SVs

2 papers

chr19:48703069 T>C

NM_000511.6

p.M38T

c.113T>C

Glyco_transf_11

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=3, hom=0)19 overlapping SVs

2 papers

chr19:48703029 A>G

NM_000511.6

p.I25V

c.73A>G

Glyco_transf_11

Exome: 0.4% (AC=6059, hom=270)Genome: 3.4% (AC=5129, hom=275)19 overlapping SVs

1 paper

chr19:48703029 A>T

NM_000511.6

p.I25L

c.73A>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

1 paper

chr19:48703023 T>A

NM_000511.6

p.S23T

c.67T>A

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

2 papers

chr19:48703023 T>C

NM_000511.6

p.S23P

c.67T>C

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

2 papers

chr19:48703019 G>A

NM_000511.6

p.T21T

c.63G>A

Glyco_transf_11

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=8, hom=0)19 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."