Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.H188Y

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.H188Y
c.562C>T
Surrounding Variants
1 paper
NM_001384359.1
p.H188H
c.564C>T
2 papers
NM_001384359.1
p.D189H
c.565G>C
2 papers
NM_001384359.1
p.L187L
c.559C>T
1 paper
NM_001384359.1
p.T186A
c.556A>G
16 papers
NM_001384359.1
p.E184delFs
c.551_552delCT
3 papers
NM_001384359.1
p.L191F
c.571C>T
6 papers
NM_001384359.1
p.E184fs
c.550_551fs
1 paper
NM_001384359.1
p.R192P
c.575G>C
1 paper
NM_001384359.1
p.R183T
c.548G>C
1 paper
NM_001384359.1
p.R183*
c.547A>T
2 papers
NM_001384359.1
p.Q180*
c.538C>T
1 paper
NM_001384359.1
p.Q196*
c.586C>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."