CFTR c.2399C>G ;(p.A800G)

Variant ID: 7-117232620-C-G

NM_000492.3(CFTR):c.2399C>G;(p.A800G)

This variant was identified in 5 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: rs397508373
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: CFTR: A800G
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research
Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR
Publication Date: 2010-10-08

Variant appearance in text: CFTR: A800G
PubMed Link: 20932301
Variant Present in the following documents:
  • 1465-9921-11-140.pdf
View BVdb publication page



Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.

Nature
Choi, J Y JY; Muallem, D D; Kiselyov, K K; Lee, M G MG; Thomas, P J PJ; Muallem, S S
Publication Date: 2001-03-01

Variant appearance in text: CFTR: A800G
PubMed Link: 11242048
Variant Present in the following documents:
  • Main text
View BVdb publication page



A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ostedgaard, L S LS; Baldursson, O O; Vermeer, D W DW; Welsh, M J MJ; Robertson, A D AD
Publication Date: 2000-05-09

Variant appearance in text: CFTR: A800G
PubMed Link: 10792060
Variant Present in the following documents:
  • Main text
View BVdb publication page