Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.R343Q
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ABCB6

NM_005689.4:p.R343Q

Associated Papers

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

41141493 (PubMed )
Supplement: mmc1.pdf

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Farrell CP et al.

Blood Advances, 2022

ABCB6, an ABC Transporter Impacting Drug Response and Disease.

Boswell-Casteel RC et al.

The Aaps Journal, 2017

The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.

Fukuda Y et al.

Nature Communications, 2016

27507172 (PubMed )
Supplement: ncomms12353-s1.pdf

Molecular analysis of immunized Jr(a-) or Lan- patients and validation of a high-throughput genotyping assay to screen blood donors for Jr(a-) and Lan- phenotypes.

Haer-Wigman L et al.

Transfusion, 2014

Alleles of the LAN blood group system: molecular and serologic investigations.

Reid ME et al.

Transfusion, 2014

Screening the expression of ABCB6 in erythrocytes reveals an unexpectedly high frequency of Lan mutations in healthy individuals.

Koszarska M et al.

Plos One, 2014

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