Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q220P
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CFTR

NM_000492.4:p.Q220P

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Impact of cholesterol and Lumacaftor on the folding of CFTR helical hairpins.

Schenkel M et al.

Biochimica Et Biophysica Acta. Biomembranes, 2023

Structural effects of extracellular loop mutations in CFTR helical hairpins.

Chang YH et al.

Biochimica Et Biophysica Acta. Biomembranes, 2018

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 › INHOUSE_CFTR

Functional and structural conservation of CBS domains from CLC chloride channels.

Estévez R et al.

The Journal of Physiology, 2004

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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."