Varaico: Literature-Extracted Genetic Variants

Gene:FUCA2
Variant:p.P189Q

FUCA2

38 papers

RefSeq Summary

This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydroly...

Pfam Domains

Alpha_L_fucosaa 24–365UCSCAlpha-L-fucosidase
Fucosidase_Caa 376–464UCSCAlpha-L-fucosidase C-terminal domain

Gene Aliases

HGNC Name

alpha-L-fucosidase 2

HGNC Alias Symbols

MGC1314; dJ20N2.5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032020.5
p.P189Q
c.566C>A
Surrounding Variants
1 paper
NM_032020.5
p.E193*
c.577G>T
1 paper
NM_032020.5
p.N219I
c.656A>T
1 paper
NM_032020.5
p.D154N
c.460G>A
1 paper
NM_032020.5
p.L225R
c.674T>G
1 paper
NM_032020.5
p.P222_V224del3
c.664_671del9
1 paper
NM_032020.5
p.A152D
c.455C>A
1 paper
NM_032020.5
p.G231R
c.691G>C
1 paper
NM_032020.5
p.G231R
c.691G>A
4 papers
NM_032020.5
p.A233E
c.698C>A
1 paper
NM_032020.5
p.W142C
c.426G>T
1 paper
NM_032020.5
p.W142C
c.426G>C
1 paper
NM_032020.5
p.R254Q
c.761G>A
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