Varaico: Literature-Extracted Genetic Variants

Gene:FPGT
Variant:p.I359L

FPGT

31 papers

RefSeq Summary

L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl...

Pfam Domains

Fucose_pyrophosphorylaseaa 101–533UCSCFucose pyrophosphorylase domain

Gene Aliases

HGNC Name

fucose-1-phosphate guanylyltransferase

HGNC Alias Symbol

GFPP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003838.5
p.I359L
c.1075A>C
Surrounding Variants
1 paper
NM_003838.5
p.G309R
c.925G>A
1 paper
NM_003838.5
p.G309R
c.925G>C
1 paper
NM_003838.5
p.D303N
c.907G>A
1 paper
NM_003838.5
p.A300V
c.899C>T
1 paper
NM_003838.5
p.D299A
c.896A>C
1 paper
NM_003838.5
p.E297A
c.890A>C
1 paper
NM_003838.5
p.D427A
c.1280A>C
1 paper
NM_003838.5
p.E289A
c.866A>C
1 paper
NM_003838.5
p.E432A
c.1295A>C
1 paper
NM_003838.5
p.I436T
c.1307T>C
2 papers
NM_003838.5
p.P448L
c.1343C>T
1 paper
NM_003838.5
p.D266delFs
c.796_797delGA
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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."