Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.R250W

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
3 papers
NM_000511.6
p.R250W
c.748C>T
Surrounding Variants
1 paper
NM_000511.6
p.R250Q
c.749G>A
2 papers
NM_000511.6
p.R250P
c.749G>C
1 paper
NM_000511.6
p.C249*
c.747T>A
1 paper
NM_000511.6
p.W248*
c.744G>A
1 paper
NM_000511.6
p.W248*
c.743G>A
18 papers
NM_000511.6
p.A247T
c.739G>A
1 paper
NM_000511.6
p.T255A
c.763A>G
1 paper
NM_000511.6
p.G245R
c.733G>C
1 paper
NM_000511.6
p.G245insFs
c.733_734insG
1 paper
NM_000511.6
p.S256delFs
c.768delC
2 papers
NM_000511.6
p.S243S
c.729T>C
3 papers
NM_000511.6
p.H257H
c.771C>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."