Varaico: Literature-Extracted Genetic Variants

Gene:POFUT2
Variant:p.D297A

POFUT2

32 papers

RefSeq Summary

Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal g...

Pfam Domains

O-FucTaa 45–400UCSCGDP-fucose protein O-fucosyltransferase

Gene Aliases

HGNC Name

protein O-fucosyltransferase 2

HGNC Previous Symbol

C21orf80

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133635.6
p.D297A
c.890A>C
Surrounding Variants
1 paper
NM_133635.6
p.V313M
c.937G>A
1 paper
NM_133635.6
p.R324W
c.970C>T
1 paper
NM_133635.6
p.K327*
c.979A>T
1 paper
NM_133635.6
p.D333A
c.998A>C
2 papers
NM_133635.6
p.A334A
c.1002C>T
1 paper
NM_133635.6
p.E348*
c.1042G>T
1 paper
NM_133635.6
p.R379Splc
c.1136+691G>T
1 paper
NM_133635.6
p.E395A
c.1184A>C
1 paper
NM_133635.6
p.E396A
c.1187A>C
1 paper
NM_133635.6
p.P422L
c.1265C>T
1 paper
NM_133635.6
p.D272N
c.814G>A
1 paper
NM_133635.6
p.P268L
c.803C>T
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."