Varaico: Literature-Extracted Genetic Variants

Gene:FUT2
Variant:p.D172E

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.D172E
c.516C>A
Surrounding Variants
1 paper
NM_000511.6
p.D172E
c.516C>G
1 paper
NM_000511.6
p.H173R
c.518A>G
1 paper
NM_000511.6
p.V174V
c.522G>A
3 papers
NM_000511.6
p.R175W
c.523C>T
1 paper
NM_000511.6
p.R175R
c.525G>C
1 paper
NM_000511.6
p.T169I
c.506C>T
1 paper
NM_000511.6
p.F168del1
c.502_503delTTC
1 paper
NM_000511.6
p.E167K
c.499G>A
1 paper
NM_000511.6
p.Q166*
c.496C>T
1 paper
NM_000511.6
p.I164N
c.491T>A
1 paper
NM_000511.6
p.F181S
c.542T>C
1 paper
NM_000511.6
p.E163E
c.489G>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."