Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K464M
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CFTR

NM_000492.4:p.K464M

Associated Papers

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Nucleotide-binding domain 1 of cystic fibrosis transmembrane conductance regulator production of a suitable protein for structural studies.

Duffieux F et al.

European Journal of Biochemistry, 2000

Recombinant synthesis of cystic fibrosis transmembrane conductance regulator and functional nucleotide-binding domains.

King SA et al.

Methods in Enzymology, 1998

Mutational analysis of the Saccharomyces cerevisiae ATP-binding cassette transporter protein Ycf1p.

Wemmie JA et al.

Molecular Microbiology, 1997

Effects of nucleotide binding fold mutations on STE6, a yeast ABC protein.

Berkower C et al.

Society of General Physiologists Series, 1993

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manifestations of cystic fibrosis.

Chu CS et al.

The Journal of Clinical Investigation, 1992

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.

Kälin N et al.

Human Mutation, 1992

Mutational analysis of the yeast a-factor transporter STE6, a member of the ATP binding cassette (ABC) protein superfamily.

Berkower C et al.

The Embo Journal, 1991

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.

Gregory RJ et al.

Molecular and Cellular Biology, 1991

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.

Cheng SH et al.

Cell, 1990

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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."