Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.A5A

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.A5A
c.15G>A
Surrounding Variants
1 paper
NM_015352.2
p.A5E
c.14C>A
1 paper
NM_015352.2
p.M1R
c.2T>G
3 papers
NM_015352.2
p.G2delFs
c.5delG
1 paper
NM_015352.2
p.L10P
c.29T>C
1 paper
NM_015352.2
p.V12E
c.35T>A
1 paper
NM_015352.2
p.L18F
c.52C>T
1 paper
NM_015352.2
p.M24L
c.70A>C
1 paper
NM_015352.2
p.M24L
c.70A>T
1 paper
NM_015352.2
p.P25L
c.74C>T
1 paper
NM_015352.2
p.S28_W29insFs
c.84_85insT
3 papers
NM_015352.2
p.W29*
c.86G>A
3 papers
NM_015352.2
p.W29*
c.87G>A
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