Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A566P
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CFTR

NM_000492.4:p.A566P

Associated Papers

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Mendoza JL et al.

Cell, 2012

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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."