Varaico: Literature-Extracted Genetic Variants

Gene:SLC14A1
Variant:p.G299E
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SLC14A1

NM_015865.7:p.G299E

Associated Papers

A novel missense mutation c.359G>A in SLC14A1, associated with Jk(a-b-) phenotype in a Chinese blood donor.

Li A et al.

Transfusion, 2025

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

[Allele Frequency and Distribution of Single Nucleotide Polymorphisms in Promoter Region of Gene Encoding the Kidd Blood Group Antigens].

Liang S et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2020

Genotyping and serotyping profiles showed weak Jka presentation for previously typed as Jknull donors.

Wu PC et al.

Vox Sanguinis, 2019

The Kidd (JK) Blood Group System.

Lawicki S et al.

Transfusion Medicine Reviews, 2017

Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.

Zhang A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2016

A novel missense mutation nt737T>G of JK gene with Jk(a-b-) phenotype in Chinese blood donors.

Ma L et al.

Transfusion Medicine (oxford, England), 2015

Clinical aspects of urea transporters.

Ran J et al.

Sub-cellular Biochemistry, 2014

Nomenclature for red blood cell blood group alleles.

Storry JR

Transfusion, 2013

The mutation spectrum of the JK-null phenotype in the Chinese population.

Guo Z et al.

Transfusion, 2013

A novel JKA allele, nt561C>A, associated with silencing of Kidd expression.

Horn T et al.

Transfusion, 2012

Genomic characterisation of the Jk(a-b-) phenotype in Thai blood donors.

Sriwanitchrak P et al.

Blood Transfusion = Trasfusione Del Sangue, 2012

Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.

Liu HM et al.

Transfusion, 2009

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