Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.V28fs

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.V28fs
c.82_83fs
Surrounding Variants
2 papers
NM_000147.5
p.V28delFs
c.82delC
1 paper
NM_000147.5
p.L22F
c.64C>T
1 paper
NM_000147.5
p.R36C
c.106C>T
1 paper
NM_000147.5
p.L15_L19delFs
c.45_57del13
1 paper
NM_000147.5
p.Y37insFs
c.110_111insT
1 paper
NM_000147.5
p.L17P
c.50T>C
1 paper
NM_000147.5
p.P39T
c.115C>A
1 paper
NM_000147.5
p.D40G
c.119A>G
1 paper
NM_000147.5
p.D45E
c.135T>A
7 papers
NM_000147.5
p.P10R
c.29C>G
1 paper
NM_000147.5
p.R47G
c.139C>G
1 paper
NM_000147.5
p.R47P
c.140G>C
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