CFTR c.204A>C ;(p.K68N)

Variant ID: 7-117149127-A-C

NM_000492.3(CFTR):c.204A>C;(p.K68N)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: K68N
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Molecular And Cellular Biology
Lee, Seakwoo S; Henderson, Mark J MJ; Schiffhauer, Eric E; Despanie, Jordan J; Henry, Katherine K; Kang, Po Wei PW; Walker, Douglas D; McClure, Michelle L ML; Wilson, Landon L; Sorscher, Eric J EJ; Zeitlin, Pamela L PL
Publication Date: 2014-07

Variant appearance in text: CFTR: K68N
PubMed Link: 24777605
Variant Present in the following documents:
  • Main text
View BVdb publication page