Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.E184delFs
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FUT1

NM_001384359.1:p.E184delFs

Associated Papers

Identification of a novel nonfunctional FUT1 allele with 358delC in a Chinese para-Bombay phenotype individual.

Tang X et al.

Transfusion, 2025

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

[In-depth identification of para-Bombay blood type in cancer patients using third-generation sequencing technology].

Wang N et al.

Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi = Chinese Journal of Cellular and Molecular Immunology, 2025

Identification of two novel variants, c.-35A>T and c.[-35A>T, 725T>G], in the FUT1 gene in a patient exhibiting the para-Bombay phenotype.

Intharanut K et al.

Transfusion, 2024

Genetic and mechanistic evaluation of an individual with para-Bombay phenotype associated with a compound heterozygote comprising two novel FUT1 variants.

Ying Y et al.

Blood Transfusion = Trasfusione Del Sangue, 2024

A novel FUT1*932A allele associated with the para-Bombay A phenotype in a Chinese individual.

Shi L et al.

Transfusion, 2024

Analysis of the molecular mechanism and pedigree investigation of para-Bombay phenotype caused by combined mutations at position h649 and h768 of FUT1 gene.

Sun X et al.

Blood Transfusion = Trasfusione Del Sangue, 2022

NM_000148.4(FUT1):c.[229C>T;302C>T] with 2 missense variations in the FUT1 gene associated with a para-Bombay phenotype.

Chen Q et al.

Transfusion, 2022

[Molecular characterization of a recombination allele of ABO blood group].

Hong X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021

Two novel FUT1 alleles that cause para-Bombay phenotype in a Chinese individual.

Lin FQ et al.

Transfusion, 2020

Aberrant ABO B Phenotype with Irregular Anti-B Caused by a Para-Bombay FUT1 Mutation.

Matzhold EM et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

ABO antigen levels on platelets of normal and variant ABO blood group individuals.

Xu X et al.

Platelets, 2019

Heterozygous FUT1 Mutations Causing a Para-Bombay Phenotype.

Er TK et al.

Clinical Laboratory, 2018

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.

Louwersheimer E et al.

Journal of Alzheimer's Disease : Jad, 2017

27911290 (PubMed )
Supplement: jad-56-jad160091-s002.xlsx › Table_S2

Genotyping of the rare Para-Bombay blood group in southern Thailand.

Rattanapan Y et al.

Hematology, Transfusion and Cell Therapy, 0

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