Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C491*
Back to variants list

CFTR

NM_000492.4:p.C491*

Associated Papers

Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR.

Paz-Y-Miño C et al.

Biomed Research International, 2020

Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing.

Ruiz-Cabezas JC et al.

Gene, 2019

Covalent modification of the regulatory domain irreversibly stimulates cystic fibrosis transmembrane conductance regulator.

Cotten JF et al.

The Journal of Biological Chemistry, 1997

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."