CFTR c.4037T>A ;(p.L1346Q)

Variant ID: 7-117304815-T-A

NM_000492.3(CFTR):c.4037T>A;(p.L1346Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs1313341594
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: CFTR: 4037T>A; Leu1346Gln; rs1313341594
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Optimization of the degenerated interfacial ATP binding site improves the function of disease-related mutant cystic fibrosis transmembrane conductance regulator (CFTR) channels.

The Journal Of Biological Chemistry
Tsai, Ming-Feng MF; Jih, Kang-Yang KY; Shimizu, Hiroyasu H; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2010-11-26

Variant appearance in text: CFTR: L1346Q
PubMed Link: 20861014
Variant Present in the following documents:
  • Main text
View BVdb publication page