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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FUT2

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

1–12 of 287 variants

63 papers

chr19:48703417 G>A

NM_000511.6

p.W154*

c.461G>A

Glyco_transf_11

Exome: 46.0% (AC=671929, hom=164237)Genome: 44.1% (AC=67000, hom=15740)18 overlapping SVs

54 papers

chr19:48703418 G>A

NM_000511.6

p.W154*

c.462G>A

Glyco_transf_11

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)18 overlapping SVs

48 papers

chr19:48703313 C>T

NM_000511.6

p.A119A

c.357C>T

Glyco_transf_11

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

35 papers

chr19:48703527 C>T

NM_000511.6

p.R191W

c.571C>T

Glyco_transf_11

Exome: 0.0% (AC=84, hom=1)Genome: 0.0% (AC=6, hom=0)18 overlapping SVs

29 papers

chr19:48703728 G>A

NM_000511.6

p.G258S

c.772G>A

Glyco_transf_11

Exome: 48.5% (AC=708333, hom=182077)Genome: 46.0% (AC=69790, hom=17061)18 overlapping SVs

18 papers

chr19:48703584 C>T

NM_000511.6

p.P210S

c.628C>T

Glyco_transf_11

exact variant not in gnomAD18 overlapping SVs

18 papers

chr19:48703695 G>A

NM_000511.6

p.A247T

c.739G>A

Glyco_transf_11

exact variant not in gnomAD18 overlapping SVs

17 papers

chr19:48703374 A>T

NM_000511.6

p.I140F

c.418A>T

Glyco_transf_11

Exome: 1.4% (AC=20210, hom=4098)Genome: 1.7% (AC=2558, hom=535)18 overlapping SVs

15 papers

chr19:48703015 T>G

NM_000511.6

p.F20C

c.59T>G

exact variant not in gnomAD19 overlapping SVs

15 papers

chr19:48703270 C>T

NM_000511.6

p.P105L

c.314C>T

Glyco_transf_11

exact variant not in gnomAD19 overlapping SVs

12 papers

chr19:48703560 C>T

NM_000511.6

p.R202*

c.604C>T

Glyco_transf_11

Exome: 0.0% (AC=504, hom=21)Genome: 0.1% (AC=77, hom=1)18 overlapping SVs

11 papers

chr19:48703346 C>T

NM_000511.6

p.N130N

c.390C>T

Glyco_transf_11

Exome: 45.4% (AC=662748, hom=156612)Genome: 42.4% (AC=64424, hom=14954)18 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."