CFTR c.1310G>A ;(p.G437D)

Variant ID: 7-117188795-G-A

NM_000492.3(CFTR):c.1310G>A;(p.G437D)

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: rs765791986
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.

Bmj Open Respiratory Research
Minso, Rebecca R; Schulz, Angela A; Dopfer, Christian C; Alfeis, Nadine N; Barneveld, Andrea van AV; Makartian-Gyulumyan, Lena L; Hansen, Gesine G; Junge, Sibylle S; Müller, Carsten C; Ringshausen, Felix C C FCC; Sauer-Heilborn, Annette A; Stanke, Frauke F; Stolpe, Cornelia C; Tamm, Stephanie S; Welte, Tobias T; Dittrich, Anna-Maria AM; Tümmler, Burkhard B
Publication Date: 2020-10

Variant appearance in text: CFTR: Gly437Asp
PubMed Link: 33020115
Variant Present in the following documents:
  • bmjresp-2020-000736supp002.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: G437D
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page