Varaico: Literature-Extracted Genetic Variants

Gene:FUT1
Variant:p.L242R
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FUT1

NM_001384359.1:p.L242R

Associated Papers

Kidney transplantation across ABO-H incompatibility in a recipient with Bombay blood group: A novel report.

Raj TY et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2025

Identification of novel FUT1 gene mutation 346A>G in an Indian Bombay phenotype patient.

Kulkarni S et al.

Transfusion, 2025

Precision diagnostics in Transfusion Medicine: Advancing accuracy in Bombay blood group typing through molecular methods.

Shastry S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 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

ACKR1 gene polymorphisms in Bombay blood group (Oh) individuals of Indian origin.

Shaikh R et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

Clinical exome sequencing elucidates underlying cause of death in sudden unexpected death of infants: two case reports.

Heathfield LJ et al.

International Journal of Legal Medicine, 2024

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

Soejima M et al.

Scientific Reports, 2023

A rare report of H-partially deficient, non-secretor phenotype from India. An Ah like the rèunion and unlike a Para Bombay-Clarifying misinterpretations.

Dhiman Y et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2023

Challenges in the transfusion management of a 15-month-old pediatric patient with Bombay blood group phenotype.

Malhotra S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2023

Identification of two novel FUT1 mutations in people with Bombay phenotype from Iran.

Shahriyari F et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2023

A Para-Bombay Blood Group Case Associated with a Novel FUT1 Mutation c.361G>A.

Lei H et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2021

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

Four Non-functional FUT1 Alleles Were Identified in Seven Chinese Individuals with Para-Bombay Phenotypes.

Liang W et al.

Iranian Journal of Public Health, 2018

FUT1 mutations responsible for the H-deficient phenotype in the Polish population, including the first example of an abolished start codon.

Michalewska B et al.

Blood Transfusion = Trasfusione Del Sangue, 2018

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

Zanjani DS et al.

Vox Sanguinis, 2016

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

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

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

The fusion allele of the FUT2 (secretor type alpha(1,2)-fucosyltransferase) gene at a high frequency and a new se385 allele in a Korean population.

Park KU et al.

Annals of Hematology, 2005

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

Chen DP et al.

Annals of Clinical and Laboratory Science, 2004

Molecular genetic analysis of para-Bombay phenotypes in Chinese: a novel non-functional FUT1 allele is identified.

Yip SP et al.

Vox Sanguinis, 2002

The polymorphisms of fucosyltransferases.

Koda Y et al.

Legal Medicine (tokyo, Japan), 2001

Two distinct Alu-mediated deletions of the human ABO-secretor (FUT2) locus in Samoan and Bangladeshi populations.

Pang H et al.

Human Mutation, 2000

Point mutations and deletion responsible for the Bombay H null and the Reunion H weak blood groups.

Fernandez-Mateos P et al.

Vox Sanguinis, 1998

Missense mutation of FUT1 and deletion of FUT2 are responsible for Indian Bombay phenotype of ABO blood group system.

Koda Y et al.

Biochemical and Biophysical Research Communications, 1997

Para-Bombay phenotype: A case report from a tertiary care hospital from South Gujarat.

Patel JN et al.

Asian Journal of Transfusion Science, 0

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