Varaico: Literature-Extracted Genetic Variants

Gene:FUT6
Variant:p.L334L

FUT6

105 papers

RefSeq Summary

The protein encoded by this gene is a Golgi stack membrane protein that is involved in the creation of sialyl-Lewis X, an E-selectin ligand. Mutations in this gene are a cause of fucosyltransferase-6 ...

Pfam Domains

Glyco_tran_10_Naa 59–169UCSCFucosyltransferase, N-terminal
Glyco_transf_10aa 185–357UCSCGlycosyltransferase family 10 (fucosyltransferase) C-term

Gene Aliases

HGNC Name

fucosyltransferase 6

HGNC Alias Symbols

FT1A; FCT3A; FucT-VI; FLJ40754

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000150.4
p.L334L
c.1002C>G
Surrounding Variants
1 paper
NM_000150.4
p.A339V
c.1016C>T
1 paper
NM_000150.4
p.S329C
c.986C>G
1 paper
NM_000150.4
p.R328H
c.983G>A
1 paper
NM_000150.4
p.W341*
c.1022G>A
1 paper
NM_000150.4
p.W341*
c.1023G>A
1 paper
NM_000150.4
p.P327T
c.979C>A
6 papers
NM_000150.4
p.R326Q
c.977G>A
1 paper
NM_000150.4
p.R326W
c.976C>T
1 paper
NM_000150.4
p.Q344R
c.1031A>G
4 papers
NM_000150.4
p.T324M
c.971C>T
1 paper
NM_000150.4
p.R322Q
c.965G>A
2 papers
NM_000150.4
p.R322W
c.964C>T
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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."