CFTR c.1873T>A ;(p.Y625N)

Variant ID: 7-117232094-T-A

NM_000492.3(CFTR):c.1873T>A;(p.Y625N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Cells
Baldassarri, Margherita M; Zguro, Kristina K; Tomati, Valeria V; Pastorino, Cristina C; Fava, Francesca F; Croci, Susanna S; Bruttini, Mirella M; Picchiotti, Nicola N; Furini, Simone S; Gen-Covid Multicenter Study, ; Pedemonte, Nicoletta N; Gabbi, Chiara C; Renieri, Alessandra A; Fallerini, Chiara C
Publication Date: 2022-12-16

Variant appearance in text: CFTR: Y625N
PubMed Link: 36552859
Variant Present in the following documents:
  • Main text
  • cells-11-04096.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: rs760390633
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: Y625N
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page