Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A875S
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CFTR

NM_000492.4:p.A875S

Associated Papers

Control of 3' splice site selection in S. cerevisiae by a highly conserved amino acid within the Prp8 α-finger domain.

Liu Y et al.

Rna (new York, N.y.), 2025

Control of 3' Splice Site Selection in S. cerevisiae by a Highly Conserved Amino Acid within the Prp8 α-finger Domain.

Liu Y et al.

Biorxiv : the Preprint Server for Biology, 2025

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants_by_legacy_name

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.

Amato F et al.

Human Mutation, 2019

The cystic fibrosis gene: a molecular genetic perspective.

Tsui LC et al.

Cold Spring Harbor Perspectives in Medicine, 2013

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.

Hinzpeter A et al.

Plos Genetics, 2010

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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."