Varaico: Literature-Extracted Genetic Variants

Gene:FPGT
Variant:p.E50A

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.E50A
c.149A>C
Surrounding Variants
1 paper
NM_003838.5
p.E50_K60del11
c.148_179del33
1 paper
NM_003838.5
p.A52D
c.155C>A
1 paper
NM_003838.5
p.Q55*
c.163C>T
1 paper
NM_003838.5
p.E65*
c.193G>T
1 paper
NM_003838.5
p.D77A
c.230A>C
1 paper
NM_003838.5
p.L26P
c.77T>C
1 paper
NM_003838.5
p.K19I
c.56A>T
1 paper
NM_003838.5
p.R18G
c.52C>G
1 paper
NM_003838.5
p.Q17_L20delFs
c.50_60del11
1 paper
NM_003838.5
p.E9K
c.25G>A
1 paper
NM_003838.5
p.D6V
c.17A>T
1 paper
NM_003838.5
p.D184A
c.551A>C
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