Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.M228V
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FUT1

NM_001384359.1:p.M228V

Associated Papers

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

Mutational Analysis of Bombay Phenotype in Iranian People: Identification of a Novel FUT1 Allele.

Roshan Mehr F et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2019

Molecular basis of Bombay phenotype in Mashhad, Iran: identification of a novel FUT1 deletion.

Zanjani DS et al.

Vox Sanguinis, 2016

[Effect of α -1,2 fucosyltransferase gene 682A> G and 547_552delAG mutations on the activity of fucosyltransferase].

Tao S et al.

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

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

Xu X 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 a novel FUT1 allele derived from the alpha-(1,2)-fucosyltransferase gene through a nucleotide substitution 682A>G.

Yan LX et al.

Transfusion Medicine (oxford, England), 2006

[Study on the molecular genetics basis for one para-Bombay phenotype].

Hong XZ et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2005

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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."