CFTR c.1012A>G ;(p.T338A)

Variant ID: 7-117180296-A-G

NM_000492.3(CFTR):c.1012A>G;(p.T338A)

This variant was identified in 15 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: rs397508142
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: T338A
PubMed Link: 29766145
Variant Present in the following documents:
  • Main text
  • ijrb-16-131.pdf
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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: 1012A>G; T338A
PubMed Link: 29216686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Murine and human CFTR exhibit different sensitivities to CFTR potentiators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01

Variant appearance in text: CFTR: T338A
PubMed Link: 26209275
Variant Present in the following documents:
  • Main text
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Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12

Variant appearance in text: CFTR: T338A
PubMed Link: 23709221
Variant Present in the following documents:
  • Main text
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Divergent CFTR orthologs respond differently to the channel inhibitors CFTRinh-172, glibenclamide, and GlyH-101.

American Journal Of Physiology. Cell Physiology
Stahl, Maximilian M; Stahl, Klaus K; Brubacher, Marie B MB; Forrest, John N JN
Publication Date: 2012-01-01

Variant appearance in text: CFTR: T338A
PubMed Link: 21940661
Variant Present in the following documents:
  • Main text
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Mutations at arginine 352 alter the pore architecture of CFTR.

The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03

Variant appearance in text: CFTR: T338A
PubMed Link: 18421494
Variant Present in the following documents:
  • Main text
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CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Biophysical Journal
Serrano, José R JR; Liu, Xuehong X; Borg, Erik R ER; Alexander, Christopher S CS; Shaw, C Frank CF; Dawson, David C DC
Publication Date: 2006-09-01

Variant appearance in text: CFTR: T338A
PubMed Link: 16766608
Variant Present in the following documents:
  • Main text
View BVdb publication page



CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.

Biophysical Journal
Liu, Xuehong X; Zhang, Zhi-Ren ZR; Fuller, Matthew D MD; Billingsley, Joshua J; McCarty, Nael A NA; Dawson, David C DC
Publication Date: 2004-12

Variant appearance in text: CFTR: T338A
PubMed Link: 15361410
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

The Journal Of General Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-12

Variant appearance in text: CFTR: T338A
PubMed Link: 14610019
Variant Present in the following documents:
  • Main text
  • 200308889.pdf
View BVdb publication page



Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

The Journal Of Physiology
Gong, Xiandi X; Linsdell, Paul P
Publication Date: 2003-06-01

Variant appearance in text: CFTR: T338A
PubMed Link: 12679372
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanism of lonidamine inhibition of the CFTR chloride channel.

British Journal Of Pharmacology
Gong, Xiandi X; Burbridge, Susan M SM; Lewis, Angie C AC; Wong, Patrick Y D PY; Linsdell, Paul P
Publication Date: 2002-11

Variant appearance in text: CFTR: T338A
PubMed Link: 12411425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.

The Journal Of Physiology
Gong, Xiandi X; Burbridge, Susan M SM; Cowley, Elizabeth A EA; Linsdell, Paul P
Publication Date: 2002-04-01

Variant appearance in text: CFTR: T338A
PubMed Link: 11927667
Variant Present in the following documents:
  • Main text
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Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

The Journal Of Physiology
Linsdell, P P
Publication Date: 2001-02-15

Variant appearance in text: CFTR: T338A
PubMed Link: 11179391
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.

The Journal Of General Physiology
Dawson, D C DC; Smith, S S SS
Publication Date: 1997-10

Variant appearance in text: CFTR: T338A
PubMed Link: 9379166
Variant Present in the following documents:
  • Main text
  • GP-7610.pdf
View BVdb publication page