CFTR c.3871C>T ;(p.Q1291*)

Variant ID: 7-117282645-C-T

NM_000492.3(CFTR):c.3871C>T;(p.Q1291*)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Annals Of Laboratory Medicine
Kim, Man Jin MJ; Kim, Soo Yeon SY; Lee, Jin Sook JS; Kang, Sanggoo S; Park, Lae-Jeong LJ; Choi, Wooyong W; Jung, Ju Yeol JY; Kim, Taehyung T; Park, Sung Sup SS; Ko, Jung Min JM; Seong, Moon-Woo MW; Chae, Jong Hee JH
Publication Date: 2023-05-01

Variant appearance in text: CFTR: 3871C>T; Gln1291*
PubMed Link: 36544340
Variant Present in the following documents:
  • alm-43-3-280-supple.xlsx, sheet 2
View BVdb publication page



Multicenter Surveillance of Cystic Fibrosis in Korean Children.

Allergy, Asthma & Immunology Research
Kim, Hyung Young HY; Hong, Soo-Jong SJ; Ahn, Kangmo K; Suh, Dong In DI; Noh, Shin Hye SH; Kim, Soo Yeon SY; Yu, Jinho J; Ko, Jung Min JM; Lee, Min Goo MG; Kim, Kyung Won KW
Publication Date: 2022-09

Variant appearance in text: CFTR: 3871C>T; Gln1291Ter; rs397508620
PubMed Link: 36174992
Variant Present in the following documents:
  • aair-14-494.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: rs397508620
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
  • 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: 3871C>T; Gln1291Ter; rs397508620
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: CFTR: Q1291*
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Correctors and Potentiators Rescue Function of the Truncated W1282X-Cystic Fibrosis Transmembrane Regulator (CFTR) Translation Product.

The Journal Of Biological Chemistry
Haggie, Peter M PM; Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Xu, Haijin H; Avramescu, Radu G RG; Perdomo, Doranda D; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Lukacs, Gergely L GL; Verkman, Alan S AS
Publication Date: 2017-01-20

Variant appearance in text: CFTR: Q1291X
PubMed Link: 27895116
Variant Present in the following documents:
  • Main text
View BVdb publication page



Erratum: Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

Annals Of Laboratory Medicine
Publication Date: 2015-01

Variant appearance in text: CFTR: Q1291X
PubMed Link: 25553309
Variant Present in the following documents:
  • alm-35-185.pdf
View BVdb publication page



Association of CFTR gene mutation with bronchial asthma.

The Indian Journal Of Medical Research
Maurya, Nutan N; Awasthi, Shally S; Dixit, Pratibha P
Publication Date: 2012-04

Variant appearance in text: CFTR: Q1291X
PubMed Link: 22664493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneous spectrum of CFTR gene mutations in Korean patients with cystic fibrosis.

The Korean Journal Of Laboratory Medicine
Jung, Haiyoung H; Ki, Chang-Seok CS; Koh, Won-Jung WJ; Ahn, Kang-Mo KM; Lee, Sang-Il SI; Kim, Jeong-Ho JH; Ko, Jae Sung JS; Seo, Jeong Kee JK; Cha, Seung-Ick SI; Lee, Eun-Sil ES; Kim, Jong-Won JW
Publication Date: 2011-07

Variant appearance in text: CFTR: Q1291X
PubMed Link: 21779199
Variant Present in the following documents:
  • Main text
  • kjlm-31-219.pdf
View BVdb publication page



Report of a Korean patient with cystic fibrosis, carrying Q98R and Q220X mutations in the CFTR gene.

Journal Of Korean Medical Science
Koh, Won-Jung WJ; Ki, Chang-Seok CS; Kim, Jong-Won JW; Kim, Jeong-Ho JH; Lim, Seong Yong SY
Publication Date: 2006-06

Variant appearance in text: CFTR: 3871C>T
PubMed Link: 16778407
Variant Present in the following documents:
  • jkms-21-563.pdf
View BVdb publication page



Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.

Journal Of Korean Medical Science
Ahn, Kang Mo KM; Park, Hwa Young HY; Lee, Ji Hyun JH; Lee, Min Goo MG; Kim, Jeong Ho JH; Kang, Im Ju IJ; Lee, Sang Il SI
Publication Date: 2005-02

Variant appearance in text: CFTR: Q1291X
PubMed Link: 15716623
Variant Present in the following documents:
  • Main text
  • jkms-20-153.pdf
View BVdb publication page