Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.R250W

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
1 paper
NM_001384359.1
p.R250W
c.748C>T
Surrounding Variants
3 papers
NM_001384359.1
p.R250P
c.749G>C
2 papers
NM_001384359.1
p.R252P
c.755G>C
4 papers
NM_001384359.1
p.D247N
c.739G>A
1 paper
NM_001384359.1
p.A255V
c.764C>T
1 paper
NM_001384359.1
p.Q244*
c.730C>T
1 paper
NM_001384359.1
p.P256P
c.768C>T
1 paper
NM_001384359.1
p.V257fs
c.769_770fs
2 papers
NM_001384359.1
p.P256delFs
c.768delG
27 papers
NM_001384359.1
p.L242R
c.725T>G
1 paper
NM_001384359.1
p.Y241S
c.722A>C
6 papers
NM_001384359.1
p.Y241H
c.721T>C
3 papers
NM_001384359.1
p.V259E
c.776T>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."