Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.Y131*

FUCA1

142 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal enzyme involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), ...

Pfam Domains

Alpha_L_fucosaa 24–367UCSCAlpha-L-fucosidase
Fucosidase_Caa 378–463UCSCAlpha-L-fucosidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-fucosidase 1

HGNC Previous Name

fucosidase, alpha-L- 1, tissue

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_000147.5
p.Y131*
c.393T>A
Surrounding Variants
5 papers
NM_000147.5
p.Y131*
c.393T>G
2 papers
NM_000147.5
p.L134F
c.402G>T
2 papers
NM_000147.5
p.L134F
c.402G>C
1 paper
NM_000147.5
p.L134L
c.402G>A
1 paper
NM_000147.5
p.T135A
c.403A>G
2 papers
NM_000147.5
p.T135M
c.404C>T
2 papers
NM_000147.5
p.T135K
c.404C>A
1 paper
NM_000147.5
p.H138Y
c.412C>T
1 paper
NM_000147.5
p.E140*
c.418G>T
1 paper
NM_000147.5
p.G141V
c.422G>T
2 papers
NM_000147.5
p.W145R
c.433T>C
2 papers
NM_000147.5
p.W145R
c.433T>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."