Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1141R
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CFTR

NM_000492.4:p.S1141R

Associated Papers

Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

Yeh HI et al.

The Journal of General Physiology, 2019

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.

Loo TW et al.

Biochemical Pharmacology, 2014

Bithiazole correctors rescue CFTR mutants by two different mechanisms.

Loo TW et al.

Biochemistry, 2013

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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."