Varaico: Literature-Extracted Genetic Variants

Gene:CX3CR1
Variant:p.V28A
Back to variants list

CX3CR1

NM_001337.4:p.V28A

Associated Papers

A CRISPR base editing approach for the functional assessment of telomere biology disorder-related genes in human health and aging.

Borges G et al.

Biogerontology, 2024

38310618 (PubMed )
Supplement: 10522_2024_10094_MOESM1_ESM.docx

Deep mutational analysis of elongation factor eEF2 residues implicated in human disease to identify functionally important contacts with the ribosome.

Olson AN et al.

The Journal of Biological Chemistry, 2023

36470424 (PubMed )
Supplement: mmc1.docx

The carboxyl-terminal valine is required for transport of glycoprotein CD8 alpha from the endoplasmic reticulum to the intermediate compartment.

Iodice L et al.

The Journal of Biological Chemistry, 2001

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."