Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.Q286R

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
11 papers
NM_000147.5
p.Q286R
c.857A>G
Surrounding Variants
2 papers
NM_000147.5
p.Q286*
c.856C>T
1 paper
NM_000147.5
p.L288W
c.863T>G
2 papers
NM_000147.5
p.D281G
c.842A>G
2 papers
NM_000147.5
p.C279_E280delFs
c.837_838delCA
1 paper
NM_000147.5
p.E280K
c.838G>A
1 paper
NM_000147.5
p.C279*
c.837T>A
1 paper
NM_000147.5
p.I299T
c.896T>C
1 paper
NM_000147.5
p.H273Y
c.817C>T
1 paper
NM_000147.5
p.D300E
c.900C>G
1 paper
NM_000147.5
p.D300E
c.900C>A
1 paper
NM_000147.5
p.S270fs
c.808_809fs
1 paper
NM_000147.5
p.S270C
c.809C>G
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