Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.L278R

POFUT1

70 papers

RefSeq Summary

This gene encodes a member of the glycosyltransferase O-Fuc family. This enzyme adds O-fucose through an O-glycosidic linkage to conserved serine or threonine residues in the epidermal growth factor-l...

Pfam Domains

O-FucTaa 34–369UCSCGDP-fucose protein O-fucosyltransferase

Gene Aliases

HGNC Name

protein O-fucosyltransferase 1

HGNC Alias Symbols

O-FUT; O-Fuc-T; KIAA0180; FUT12

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015352.2
p.L278R
c.833T>G
Surrounding Variants
1 paper
NM_015352.2
p.T279M
c.836C>T
1 paper
NM_015352.2
p.C283Y
c.848G>A
1 paper
NM_015352.2
p.R272C
c.814C>T
2 papers
NM_015352.2
p.Q291*
c.871C>T
4 papers
NM_015352.2
p.M262T
c.785T>C
1 paper
NM_015352.2
p.W297delFs
c.889_890delTG
1 paper
NM_015352.2
p.S259S
c.777G>A
2 papers
NM_015352.2
p.W297fs
c.889_890fs
5 papers
NM_015352.2
p.W297*
c.890G>A
6 papers
NM_015352.2
p.W297*
c.891G>A
1 paper
NM_015352.2
p.S300L
c.899C>T
1 paper
NM_015352.2
p.M251V
c.751A>G
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."