Varaico: Literature-Extracted Genetic Variants

Gene:FUCA2
Variant:p.H371Y

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
4 papers
NM_032020.5
p.H371Y
c.1111C>T
Surrounding Variants
1 paper
NM_032020.5
p.Q376R
c.1127A>G
5 papers
NM_032020.5
p.M356V
c.1066A>G
1 paper
NM_032020.5
p.G330insFs
c.988_989insT
1 paper
NM_032020.5
p.C329F
c.986G>T
1 paper
NM_032020.5
p.L300P
c.899T>C
1 paper
NM_032020.5
p.I297T
c.890T>C
1 paper
NM_032020.5
p.Y281C
c.842A>G
1 paper
NM_032020.5
p.A265delFs
c.794delG
1 paper
NM_032020.5
p.R254Q
c.761G>A
4 papers
NM_032020.5
p.A233E
c.698C>A
1 paper
NM_032020.5
p.G231R
c.691G>C
1 paper
NM_032020.5
p.G231R
c.691G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."