Varaico: Literature-Extracted Genetic Variants

Gene:FUCA2

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
1–12 of 42 variants
5 papers
NM_032020.5
p.M356V
c.1066A>G
4 papers
NM_032020.5
p.A233E
c.698C>A
4 papers
NM_032020.5
p.H371Y
c.1111C>T
1 paper
NM_032020.5
p.L21P
c.62T>C
1 paper
NM_032020.5
p.L20_P22del0
c.59_64del6
1 paper
NM_032020.5
p.D35del1
c.103_105delGTC
1 paper
NM_032020.5
p.I59_F64del6
c.175_191del18
1 paper
NM_032020.5
p.F69F
c.207C>T
1 paper
NM_032020.5
p.F74_W75del1
c.222_224delCAG
1 paper
NM_032020.5
p.K85insFs
c.253_254insTC
1 paper
NM_032020.5
p.Y86insFs
c.257_258ins17
1 paper
NM_032020.5
p.V87insFs
c.259_260ins5
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."