Varaico: Literature-Extracted Genetic Variants

Gene:FUT8
Variant:p.L452Q

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.L452Q
c.1355T>A
Surrounding Variants
2 papers
NM_001371533.1
p.D453A
c.1358A>C
1 paper
NM_001371533.1
p.V464L
c.1390G>C
1 paper
NM_001371533.1
p.V464L
c.1390G>T
1 paper
NM_001371533.1
p.S468delFs
c.1402delT
1 paper
NM_001371533.1
p.S468delFs
c.1403delC
2 papers
NM_001371533.1
p.S468fs
c.1402_1403fs
2 papers
NM_001371533.1
p.S469A
c.1405T>G
1 paper
NM_001371533.1
p.S469F
c.1406C>T
1 paper
NM_001371533.1
p.W434*
c.1302G>A
1 paper
NM_001371533.1
p.W434*
c.1301G>A
1 paper
NM_001371533.1
p.P422L
c.1265C>T
1 paper
NM_001371533.1
p.R473Q
c.1418G>A
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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."