Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.H116Q

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.H116Q
c.348C>G
Surrounding Variants
1 paper
NM_000147.5
p.H116Q
c.348C>A
1 paper
NM_000147.5
p.E118fs
c.352_353fs
1 paper
NM_000147.5
p.E119fs
c.355_356fs
1 paper
NM_000147.5
p.W120R
c.358T>C
1 paper
NM_000147.5
p.W120R
c.358T>A
1 paper
NM_000147.5
p.W120delFs
c.358delA
4 papers
NM_000147.5
p.W120C
c.360G>T
4 papers
NM_000147.5
p.W120C
c.360G>C
1 paper
NM_000147.5
p.E119_D122delFs
c.355_364del10
1 paper
NM_000147.5
p.A127E
c.380C>A
1 paper
NM_000147.5
p.D105N
c.313G>A
1 paper
NM_000147.5
p.Y103H
c.307T>C
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."