Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.R173Q

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.R173Q
c.518G>A
Surrounding Variants
1 paper
NM_000147.5
p.R173W
c.517C>T
1 paper
NM_000147.5
p.L172L
c.516C>T
1 paper
NM_000147.5
p.L164F
c.492G>T
1 paper
NM_000147.5
p.L164F
c.492G>C
1 paper
NM_000147.5
p.L164M
c.490T>A
2 papers
NM_000147.5
p.R162Q
c.485G>A
1 paper
NM_000147.5
p.H161R
c.482A>G
1 paper
NM_000147.5
p.P160S
c.478C>T
1 paper
NM_000147.5
p.G159_P160insFs
c.477_478insT
1 paper
NM_000147.5
p.V158L
c.472G>T
1 paper
NM_000147.5
p.V158L
c.472G>C
1 paper
NM_000147.5
p.K156delFs
c.467_468delTT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."