Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.R308C

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.R308C
c.922C>T
Surrounding Variants
1 paper
NM_000147.5
p.R308S
c.922C>A
1 paper
NM_000147.5
p.R307H
c.920G>A
1 paper
NM_000147.5
p.R307C
c.919C>T
1 paper
NM_000147.5
p.G305G
c.915C>T
1 paper
NM_000147.5
p.S303T
c.907T>A
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.I299T
c.896T>C
1 paper
NM_000147.5
p.E318*
c.952G>T
1 paper
NM_000147.5
p.E318K
c.952G>A
1 paper
NM_000147.5
p.I322V
c.964A>G
1 paper
NM_000147.5
p.S323L
c.968C>T
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