Varaico: Literature-Extracted Genetic Variants

Gene:FUT8
Variant:p.R116R

FUT8

64 papers

RefSeq Summary

This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzym...

Pfam Domains

FUT8_N_cataa 1–498UCSCAlpha-(1,6)-fucosyltransferase N- and catalytic domains
SH3_9aa 509–559UCSCVariant SH3 domain

Gene Aliases

HGNC Name

fucosyltransferase 8

HGNC Previous Name

fucosyltransferase 8 (alpha (1,6) fucosyltransferase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371533.1
p.R116R
c.348G>A
Surrounding Variants
1 paper
NM_001371533.1
p.S132C
c.394A>T
1 paper
NM_001371533.1
p.E144*
c.430G>T
2 papers
NM_001371533.1
p.K101Q
c.301A>C
1 paper
NM_001371533.1
p.I74M
c.222T>G
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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."