Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.A12V
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FUT1

NM_001384359.1:p.A12V

Associated Papers

A para-Bombay phenotype due to compound heterozygosity involving a novel FUT1 variant.

Brajovich ML et al.

Vox Sanguinis, 2026

Identification of a novel nonfunctional variant, c.931G>C, on the FUT1*01.02 allele in a Chinese para-Bombay phenotype individual.

Zhang S et al.

Transfusion, 2025

Genetic analysis and protein modeling evaluation of a novel FUT1 variant c.683T>C (p.Met228Thr) in a Chinese individual with para-Bombay phenotype.

He Y et al.

Transfusion, 2025

Identification of a Novel FUT1 Allele with c.425G > A on the FUT1*01 Allele Background.

Shao LN et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.

Mazières S et al.

Scientific Reports, 2025

39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S5

A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene.

Li C et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

FUT1 variants responsible for Bombay or para-Bombay phenotypes in a database.

Soejima M et al.

Scientific Reports, 2023

Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.

Liu Z et al.

Nature Genetics, 2023

In silico genotyping of blood group alleles using WGS data: a comparative study of the Orang Asli in Peninsular Malaysia.

Rophina M et al.

Journal of Genetics, 2023

Identification of two novel FUT1 alleles in a Chinese para-Bombay individual.

Han B et al.

Transfusion, 2022

[Identification of a novel FUT1 allele in a Chinese individual featuring para-Bombay phenotype].

Li Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

A novel FUT1 variant allele was identified in a Chinese Para-Bombay individual.

Han B et al.

Transfusion, 2022

Prediction of various blood group systems using Korean whole-genome sequencing data.

Hyun J et al.

Plos One, 2022

35657818 (PubMed )
Supplement: pone.0269481.s003.xlsx › 010

Two novel alleles on Fucosyltransferase 2 from northern Thai para-Bombay family and computational prediction on mutation effect.

Anukul N et al.

Transfusion, 2021

[Identification of a novel FUT1 allele of para-Bombay phenotype].

Yu L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Development and evaluation of a transfusion medicine genome wide genotyping array.

Guo Y et al.

Transfusion, 2019

A Very Rare Case with Particular H-deficient Phenotypes.

Song M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2018

Identification of a novel FUT1 allele with two mutations in a Chinese para-Bombay individual.

Wang L et al.

Transfusion, 2017

[Study of a case with homozygous 35C>T and 658C>T mutations of FUT1 gene leading to a para-Bombay phenotype].

Lin F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Interaction of genetic markers associated with serum alkaline phosphatase levels in the Japanese population.

Masuda M et al.

Human Genome Variation, 2015

Two Novel α 1,2-Fucosyltransferase Alleles in an H-Deficient Phenotype Individual.

He Z et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2014

[Formation of para-Bombay phenotype caused by homozygous or heterozygous mutation of FUT1 gene].

Zhang JP et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2014

The summary of FUT1 and FUT2 genotyping analysis in Chinese para-Bombay individuals including additional nine probands from Guangzhou in China.

Luo G et al.

Transfusion, 2013

C35T mutation could slightly decrease the activity of human α-(1,2)-fucosyltransferase.

Tao S et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2012

A novel FUT1 allele was identified in a Chinese individual with para-Bombay phenotype.

Xu X et al.

Transfusion Medicine (oxford, England), 2011

Molecular genetic analysis for the para-Bombay blood group revealing two novel alleles in the FUT1 gene.

Cai XH et al.

Blood Transfusion = Trasfusione Del Sangue, 2011

H blood-group deficiency has a high frequency in Lahu Chinese.

Cai XH et al.

Transfusion Medicine (oxford, England), 2011

[Para-Bombay phenotype caused by combined heterozygote of two bases deletion on fut1 alleles].

Ma KR et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011

[Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype].

Xu XG et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2010

Identification of 14 new alleles at the fucosyltransferase 1, 2, and 3 loci in Styrian blood donors, Austria.

Matzhold EM et al.

Transfusion, 2009

Identification of six new alleles at the FUT1 and FUT2 loci in ethnically diverse individuals with Bombay and Para-Bombay phenotypes.

Storry JR et al.

Transfusion, 2006

[Study on the frequency of alpha-1,2-fucosyltransferase gene h4 allele (C35T) in Chinese population].

Xu XG et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese.

Chen DP et al.

Annals of Clinical and Laboratory Science, 2004

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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."