Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A1
Variant:p.E480K
Back to variants list

SLC4A1

NM_000342.4:p.E480K

Associated Papers

Substitution Glu480Lys in erythroid band 3 corresponds to the Fr(a) blood group antigen and supports existence of the second ectoplasmic loop of band 3.

Jarolim P et al.

Transfusion, 2004

An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism.

McManus K et al.

Transfusion, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."