Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.L223L

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

SE

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000511.6
p.L223L
c.669A>G
Surrounding Variants
1 paper
NM_000511.6
p.Q224*
c.670C>T
1 paper
NM_000511.6
p.Q225R
c.674A>G
1 paper
NM_000511.6
p.A226P
c.676G>C
3 papers
NM_000511.6
p.A226V
c.677C>T
1 paper
NM_000511.6
p.R220Q
c.659G>A
6 papers
NM_000511.6
p.R220W
c.658C>T
1 paper
NM_000511.6
p.D219D
c.657C>T
1 paper
NM_000511.6
p.L227L
c.681G>A
1 paper
NM_000511.6
p.L227L
c.681G>C
1 paper
NM_000511.6
p.D219N
c.655G>A
1 paper
NM_000511.6
p.D219H
c.655G>C
1 paper
NM_000511.6
p.A218V
c.653C>T
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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."