Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.C281*

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.C281*
c.843T>A
Surrounding Variants
1 paper
NM_000511.6
p.T284I
c.851C>T
1 paper
NM_000511.6
p.T290M
c.869C>T
1 paper
NM_000511.6
p.A272T
c.814G>A
1 paper
NM_000511.6
p.P271fs
c.811_812fs
2 papers
NM_000511.6
p.P271delFs
c.811delC
2 papers
NM_000511.6
p.G269G
c.807C>T
1 paper
NM_000511.6
p.I293I
c.879C>T
1 paper
NM_000511.6
p.W294R
c.880T>C
1 paper
NM_000511.6
p.W294*
c.881G>A
2 papers
NM_000511.6
p.W294*
c.882G>A
2 papers
NM_000511.6
p.E268K
c.802G>A
2 papers
NM_000511.6
p.A296T
c.886G>A
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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."