Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E92Q
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CFTR

NM_000492.4:p.E92Q

Associated Papers

Trivalent anions as probes of the CFTR channel pore.

Linsdell P

General Physiology and Biophysics, 2024

Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

Linsdell P et al.

The Journal of Biological Chemistry, 2022

iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.

Melguizo-Sanchis D et al.

Cell Death & Disease, 2018

29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Ren HY et al.

Molecular Biology of the Cell, 2013

23924900 (PubMed )
Supplement: supp_E13-05-0240v1_CombinedSupMats.pdf

Amino acid residues lining the chloride channel of the cystic fibrosis transmembrane conductance regulator.

Akabas MH et al.

The Journal of Biological Chemistry, 1994

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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."