Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.F23Y
Back to variants list

TFRC

NM_001128148.3:p.F23Y

Associated Papers

A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.

Aba Ü et al.

Journal of Clinical Immunology, 2024

YTRF is the conserved internalization signal of the transferrin receptor, and a second YTRF signal at position 31-34 enhances endocytosis.

Collawn JF et al.

The Journal of Biological Chemistry, 1993

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."