Varaico: Literature-Extracted Genetic Variants

Gene:FUT6
Variant:p.P6L

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.P6L
c.17C>T
Surrounding Variants
1 paper
NM_000150.4
p.P6P
c.18G>A
1 paper
NM_000150.4
p.G5S
c.13G>A
2 papers
NM_000150.4
p.L20V
c.58C>G
7 papers
NM_000150.4
p.L20R
c.59T>G
1 paper
NM_000150.4
p.L21L
c.63G>A
1 paper
NM_000150.4
p.Q23L
c.68A>T
1 paper
NM_000150.4
p.C29*
c.87T>A
2 papers
NM_000150.4
p.Y33N
c.97T>A
1 paper
NM_000150.4
p.R35H
c.104G>A
1 paper
NM_000150.4
p.D39N
c.115G>A
1 paper
NM_000150.4
p.A58T
c.172G>A
1 paper
NM_000150.4
p.A58V
c.173C>T
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