CFTR c.1369G>C ;(p.A457P)

Variant ID: 7-117188854-G-C

NM_000492.3(CFTR):c.1369G>C;(p.A457P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics
Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S
Publication Date: 2022-07-20

Variant appearance in text: CFTR: 1369G>C; Ala457Pro
PubMed Link: 35858753
Variant Present in the following documents:
  • jmg-2022-108501supp001.pdf
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1369G>C
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
View BVdb publication page



A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine
Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J
Publication Date: 2021-09

Variant appearance in text: CFTR: 1369G>C
PubMed Link: 34557648
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome.

Frontiers In Synaptic Neuroscience
Farr, Clemens V CV; El-Kasaby, Ali A; Freissmuth, Michael M; Sucic, Sonja S
Publication Date: 2020

Variant appearance in text: CFTR: A457P
PubMed Link: 33192443
Variant Present in the following documents:
  • Main text
View BVdb publication page



How to rescue misfolded SERT, DAT and NET: targeting conformational intermediates with atypical inhibitors and partial releasers.

Biochemical Society Transactions
Bhat, Shreyas S; Newman, Amy Hauck AH; Freissmuth, Michael M
Publication Date: 2019-06-28

Variant appearance in text: CFTR: A457P
PubMed Link: 31064865
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis.

Case Reports In Medicine
Cole, Kate H KH; Sosnay, Patrick R PR; Yarmus, Lonny B LB; Zuckerman, Jonathan B JB
Publication Date: 2011

Variant appearance in text: CFTR: 1369G>C; Ala457Pro
PubMed Link: 22194755
Variant Present in the following documents:
  • Main text
  • CRIM2011-903910.pdf
View BVdb publication page