CFTR c.1960A>G ;(p.S654G)

Variant ID: 7-117232181-A-G

NM_000492.3(CFTR):c.1960A>G;(p.S654G)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

Acta Neuropathologica Communications
Rovelet-Lecrux, Anne A; Feuillette, Sebastien S; Miguel, Laetitia L; Schramm, Catherine C; Pernet, Ségolène S; Quenez, Olivier O; Ségalas-Milazzo, Isabelle I; Guilhaudis, Laure L; Rousseau, Stéphane S; Riou, Gaëtan G; Frébourg, Thierry T; Campion, Dominique D; Nicolas, Gaël G; Lecourtois, Magalie M
Publication Date: 2021-12-18

Variant appearance in text: CFTR: S654G
PubMed Link: 34922638
Variant Present in the following documents:
  • 40478_2021_Article_1294.pdf
View BVdb publication page



Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

Acta Neuropathologica Communications
Rovelet-Lecrux, Anne A; Feuillette, Sebastien S; Miguel, Laetitia L; Schramm, Catherine C; Pernet, Ségolène S; Quenez, Olivier O; Ségalas-Milazzo, Isabelle I; Guilhaudis, Laure L; Rousseau, Stéphane S; Riou, Gaëtan G; Frébourg, Thierry T; Campion, Dominique D; Nicolas, Gaël G; Lecourtois, Magalie M
Publication Date: 2021-12-18

Variant appearance in text: CFTR: S654G
PubMed Link: 34922638
Variant Present in the following documents:
  • 40478_2021_Article_1294.pdf
View BVdb publication page



Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)
Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI
Publication Date: 2020

Variant appearance in text: rs1800099
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800099
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CFTR: S654G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



A novel computational and structural analysis of nsSNPs in CFTR gene.

Genomic Medicine
George Priya Doss, C C; Rajasekaran, R R; Sudandiradoss, C C; Ramanathan, K K; Purohit, R R; Sethumadhavan, R R
Publication Date: 2008-01

Variant appearance in text: CFTR: S654G; rs1800099
PubMed Link: 18716917
Variant Present in the following documents:
  • Main text
View BVdb publication page