Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.P213S

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.P213S
c.637C>T
Surrounding Variants
1 paper
NM_000147.5
p.P213P
c.639A>T
1 paper
NM_000147.5
p.T211fs
c.631_632fs
1 paper
NM_000147.5
p.Y216F
c.647A>T
2 papers
NM_000147.5
p.Y216*
c.648C>G
2 papers
NM_000147.5
p.Y216*
c.648C>A
1 paper
NM_000147.5
p.A209E
c.626C>A
1 paper
NM_000147.5
p.A209T
c.625G>A
1 paper
NM_000147.5
p.V207F
c.619G>T
1 paper
NM_000147.5
p.N220fs
c.658_659fs
1 paper
NM_000147.5
p.S221fs
c.661_662fs
1 paper
NM_000147.5
p.S221G
c.661A>G
1 paper
NM_000147.5
p.S221delFs
c.661delT
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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."