CFTR c.1606A>T ;(p.K536*)

Variant ID: 7-117227814-A-T

NM_000492.3(CFTR):c.1606A>T;(p.K536*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: CFTR: 1606A>T; rs148173473
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
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: rs148173473
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Basic and clinical genetic studies on male infertility in Iran during 2000-2016: A review.

International Journal Of Reproductive Biomedicine
Moghbelinejad, Sahar S; Mozdarani, Hossein H; Ghoraeian, Pegah P; Asadi, Reihaneh R
Publication Date: 2018-03

Variant appearance in text: CFTR: K536X
PubMed Link: 29766145
Variant Present in the following documents:
  • Main text
  • ijrb-16-131.pdf
View BVdb publication page



Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology
de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S
Publication Date: 2018-01

Variant appearance in text: CFTR: 1606A>T; K536X
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Rappahahn, Krista K; Pique, Lynn L; Kharrazi, Martin M; Wong, Lee-Jun LJ
Publication Date: 2008-07

Variant appearance in text: CFTR: K536X
PubMed Link: 18556774
Variant Present in the following documents:
  • Main text
View BVdb publication page