Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.R739C
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ABCB6

NM_005689.4:p.R739C

Associated Papers

Exome sequencing reveals new insights into the germline landscape of inflammatory breast cancer among Tunisian patients.

Boujemaa M et al.

Journal of Translational Medicine, 2025

41088366 (PubMed )
Supplement: 12967_2025_7027_MOESM1_ESM.xlsx › S5

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

Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Jadhao S et al.

Blood Advances, 2022

35420653 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table3

Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.

Andolfo I et al.

Genes, 2021

Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum.

Egan ES et al.

Communications Biology, 2018

30271928 (PubMed )
Supplement: 42003_2018_46_MOESM1_ESM.pdf

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

Integrative data mining highlights candidate genes for monogenic myopathies.

Abath Neto O et al.

Plos One, 2014

25353622 (PubMed )
Supplement: pone.0110888.s004.xlsx › Table_S4
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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."