Varaico: Literature-Extracted Genetic Variants

Gene:FUT6
Variant:p.P285L

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.P285L
c.854C>T
Surrounding Variants
3 papers
NM_000150.4
p.P285P
c.855A>G
1 paper
NM_000150.4
p.D293D
c.879C>T
1 paper
NM_000150.4
p.P298S
c.892C>T
1 paper
NM_000150.4
p.A268T
c.802G>A
5 papers
NM_000150.4
p.R303G
c.907C>G
2 papers
NM_000150.4
p.R303Q
c.908G>A
1 paper
NM_000150.4
p.D309N
c.925G>A
1 paper
NM_000150.4
p.K258R
c.773A>G
1 paper
NM_000150.4
p.E257A
c.770A>C
1 paper
NM_000150.4
p.E257K
c.769G>A
1 paper
NM_000150.4
p.R314H
c.941G>A
1 paper
NM_000150.4
p.T256A
c.766A>G
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