Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.Y239*

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
2 papers
NM_000147.5
p.Y239*
c.717C>A
Surrounding Variants
2 papers
NM_000147.5
p.Y239*
c.717C>G
1 paper
NM_000147.5
p.P236delFs
c.707delG
1 paper
NM_000147.5
p.P236fs
c.706_707fs
1 paper
NM_000147.5
p.P236S
c.706C>T
1 paper
NM_000147.5
p.W233*
c.699G>A
1 paper
NM_000147.5
p.W233*
c.698G>A
1 paper
NM_000147.5
p.E232G
c.695A>G
3 papers
NM_000147.5
p.G231R
c.691G>C
3 papers
NM_000147.5
p.G231R
c.691G>A
1 paper
NM_000147.5
p.D230G
c.689A>G
1 paper
NM_000147.5
p.S229F
c.686C>T
1 paper
NM_000147.5
p.D252N
c.754G>A
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."