Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.W188*

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
4 papers
NM_000147.5
p.W188*
c.564G>A
Surrounding Variants
3 papers
NM_000147.5
p.W188*
c.563G>A
1 paper
NM_000147.5
p.H183_W188delFs
c.549_562del14
2 papers
NM_000147.5
p.L186insFs
c.558dupA
1 paper
NM_000147.5
p.E187fs
c.559_560fs
1 paper
NM_000147.5
p.P191L
c.572C>T
1 paper
NM_000147.5
p.L185fs
c.553_554fs
1 paper
NM_000147.5
p.G180_Y182Fs
c.539_546delinsTTTAAGGAAFs
1 paper
NM_000147.5
p.K197E
c.589A>G
1 paper
NM_000147.5
p.G180fs
c.538_539fs
1 paper
NM_000147.5
p.R178C
c.532C>T
1 paper
NM_000147.5
p.G200D
c.599G>A
1 paper
NM_000147.5
p.R175Splc
c.525-1G>A
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