Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.R220H

FUT1

280 papers

RefSeq Summary

This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. Th...

Pfam Domains

Glyco_transf_11aa 37–353UCSCGlycosyl transferase family 11

Gene Aliases

HGNC Name

fucosyltransferase 1

HGNC Previous Symbol

HSC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001384359.1
p.R220H
c.659G>A
Surrounding Variants
26 papers
NM_001384359.1
p.R220C
c.658C>T
1 paper
NM_001384359.1
p.R221C
c.661C>T
1 paper
NM_001384359.1
p.V219L
c.655G>C
1 paper
NM_001384359.1
p.V219M
c.655G>A
1 paper
NM_001384359.1
p.G222R
c.664G>C
3 papers
NM_001384359.1
p.G222R
c.664G>A
1 paper
NM_001384359.1
p.G222E
c.665G>A
1 paper
NM_001384359.1
p.H218R
c.653A>G
1 paper
NM_001384359.1
p.H218D
c.652C>G
1 paper
NM_001384359.1
p.D223N
c.667G>A
1 paper
NM_001384359.1
p.V217A
c.650T>C
4 papers
NM_001384359.1
p.V217F
c.649G>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."