Varaico: Literature-Extracted Genetic Variants

Gene:ABCB6
Variant:p.R247C
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ABCB6

NM_005689.4:p.R247C

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

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

ABCB6 polymorphisms are not overly represented in patients with porphyria.

Farrell CP et al.

Blood Advances, 2022

RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Jadhao S et al.

Ebiomedicine, 2022

35033986 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table11

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
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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."