Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.F77L

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.F77L
c.231C>G
Surrounding Variants
1 paper
NM_000147.5
p.F77fs
c.229_230fs
1 paper
NM_000147.5
p.F77L
c.231C>A
1 paper
NM_000147.5
p.F77delFs
c.230delA
1 paper
NM_000147.5
p.F77L
c.229T>C
2 papers
NM_000147.5
p.F77fs
c.229_230fs
1 paper
NM_000147.5
p.W79*
c.236G>A
1 paper
NM_000147.5
p.W79*
c.237G>A
1 paper
NM_000147.5
p.E75Q
c.223G>C
1 paper
NM_000147.5
p.S74T
c.221G>C
1 paper
NM_000147.5
p.G73fs
c.217_218fs
7 papers
NM_000147.5
p.Q82*
c.244C>T
1 paper
NM_000147.5
p.Q82K
c.244C>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."