Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M265V
Back to variants list

CFTR

NM_000492.4:p.M265V

Associated Papers

Downstream Alternate Start Site Allows N-Terminal Nonsense Variants to Escape NMD and Results in Functional Recovery by Readthrough and Modulator Combination.

Bowling A et al.

Journal of Personalized Medicine, 2022

CFTR is a conductance regulator as well as a chloride channel.

Schwiebert EM et al.

Physiological Reviews, 1999

Cystic fibrosis transmembrane conductance regulator-associated ATP release is controlled by a chloride sensor.

Jiang Q et al.

The Journal of Cell Biology, 1998

CFTR: domains, structure, and function.

Devidas S et al.

Journal of Bioenergetics and Biomembranes, 1997

Alternate translation initiation codons can create functional forms of cystic fibrosis transmembrane conductance regulator.

Carroll TP et al.

The Journal of Biological Chemistry, 1995

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."