Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.R366W

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
4 papers
NM_015352.2
p.R366W
c.1096C>T
Surrounding Variants
1 paper
NM_015352.2
p.R364W
c.1090C>T
2 papers
NM_015352.2
p.A360_F361insFs
c.1080_1081insG
1 paper
NM_015352.2
p.P372del1
c.1114_1116delCCG
1 paper
NM_015352.2
p.S373_S374delFs
c.1119_1122del4
1 paper
NM_015352.2
p.F375fs
c.1123_1124fs
1 paper
NM_015352.2
p.F375S
c.1124T>C
4 papers
NM_015352.2
p.S356F
c.1067C>T
1 paper
NM_015352.2
p.G377S
c.1129G>A
1 paper
NM_015352.2
p.G377C
c.1129G>T
1 paper
NM_015352.2
p.D348N
c.1042G>A
1 paper
NM_015352.2
p.D348Y
c.1042G>T
1 paper
NM_015352.2
p.Q346_C354del9
c.1036_1061del27
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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."