Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.R142W

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
7 papers
NM_001384359.1
p.R142W
c.424C>T
Surrounding Variants
2 papers
NM_001384359.1
p.W141*
c.423G>A
1 paper
NM_001384359.1
p.R142Q
c.425G>A
1 paper
NM_001384359.1
p.W141L
c.422G>T
3 papers
NM_001384359.1
p.W141*
c.422G>A
2 papers
NM_001384359.1
p.W141R
c.421T>C
1 paper
NM_001384359.1
p.P140S
c.418C>T
6 papers
NM_001384359.1
p.D148Y
c.442G>T
1 paper
NM_001384359.1
p.D148N
c.442G>A
1 paper
NM_001384359.1
p.W149L
c.446G>T
1 paper
NM_001384359.1
p.P133del1
c.397_398delTGG
1 paper
NM_001384359.1
p.A132_P133del1
c.396_398delGGG
1 paper
NM_001384359.1
p.P122_P133del0
c.366_398del33
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