Varaico: Literature-Extracted Genetic Variants

Gene:FUCA1
Variant:p.K197E

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.K197E
c.589A>G
Surrounding Variants
1 paper
NM_000147.5
p.G200D
c.599G>A
1 paper
NM_000147.5
p.P191L
c.572C>T
1 paper
NM_000147.5
p.N199_T203delFs
c.595_607del13
4 papers
NM_000147.5
p.W188*
c.564G>A
3 papers
NM_000147.5
p.W188*
c.563G>A
1 paper
NM_000147.5
p.H183_W188delFs
c.549_562del14
1 paper
NM_000147.5
p.V207F
c.619G>T
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.L185fs
c.553_554fs
1 paper
NM_000147.5
p.A209T
c.625G>A
1 paper
NM_000147.5
p.A209E
c.626C>A
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