Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.F316L

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.F316L
c.948C>G
Surrounding Variants
1 paper
NM_000511.6
p.F316I
c.946T>A
1 paper
NM_000511.6
p.F320insFs
c.958_959insG
1 paper
NM_000511.6
p.A307T
c.919G>A
1 paper
NM_000511.6
p.A307S
c.919G>T
1 paper
NM_000511.6
p.Y305Y
c.915C>T
1 paper
NM_000511.6
p.P328L
c.983C>T
1 paper
NM_000511.6
p.E329E
c.987G>A
1 paper
NM_000511.6
p.D302G
c.905A>G
2 papers
NM_000511.6
p.T331T
c.993A>G
1 paper
NM_000511.6
p.G332R
c.994G>A
1 paper
NM_000511.6
p.G332R
c.994G>C
3 papers
NM_000511.6
p.G301R
c.901G>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."