Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.V66L

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
1 paper
NM_000147.5
p.V66L
c.196G>T
Surrounding Variants
2 papers
NM_000147.5
p.G65D
c.194G>A
2 papers
NM_000147.5
p.S68L
c.203C>T
1 paper
NM_000147.5
p.V60L
c.178G>T
1 paper
NM_000147.5
p.V60L
c.178G>C
1 paper
NM_000147.5
p.W72*
c.215G>A
1 paper
NM_000147.5
p.F58L
c.174C>G
1 paper
NM_000147.5
p.F58L
c.174C>A
1 paper
NM_000147.5
p.G73fs
c.217_218fs
1 paper
NM_000147.5
p.F58L
c.172T>C
1 paper
NM_000147.5
p.K57fs
c.169_170fs
1 paper
NM_000147.5
p.S74T
c.221G>C
1 paper
NM_000147.5
p.E75Q
c.223G>C
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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."