Varaico: Literature-Extracted Genetic Variants

Gene:FUT6
Variant:p.E247K
Back to variants list

FUT6

NM_000150.4:p.E247K

Associated Papers

Protein quantitative trait locus analysis in African American and non-Hispanic White individuals.

Cai Y et al.

Genome Biology, 2025

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table2

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table10

FUT6 deficiency compromises basophil function by selectively abrogating their sialyl-Lewis x expression.

Puan KJ et al.

Communications Biology, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Akdeniz D et al.

Molecular Genetics & Genomic Medicine, 2019

Defining the genetic control of human blood plasma N-glycome using genome-wide association study.

Sharapov SZ et al.

Human Molecular Genetics, 2019

GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians.

Nongmaithem SS et al.

Human Molecular Genetics, 2017

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › M121224

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

Mutation of amino acids in the alpha 1,3-fucosyltransferase motif affects enzyme activity and Km for donor and acceptor substrates.

Jost F et al.

Glycobiology, 2005

The polymorphisms of fucosyltransferases.

Koda Y et al.

Legal Medicine (tokyo, Japan), 2001

Molecular analysis of plasma alpha 1,3-fucosyltransferase deficiency and development of the methods for its genotyping.

Tanaka S et al.

Experimental and Clinical Immunogenetics, 2001

Identification of two functionally deficient plasma alpha 3-fucosyltransferase (FUT6) alleles.

Elmgren A et al.

Human Mutation, 2000

Allelic diversity of the human plasma alpha(1,3)fucosyltransferase gene (FUT6).

Pang H et al.

Annals of Human Genetics, 1999

Identification of a new plasma alpha(1,3)fucosyltransferase (FUT6) allele requires an extended genotyping strategy.

Larson G et al.

Vox Sanguinis, 1996

Correlation of FUT3 and FUT6 Gene Polymorphisms With Helicobacter pylori Infection.

Zhou S et al.

Helicobacter, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."