CFTR c.1052C>T ;(p.T351I)

Variant ID: 7-117180336-C-T

NM_000492.3(CFTR):c.1052C>T;(p.T351I)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases
Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X
Publication Date: 2022-03-21

Variant appearance in text: CFTR: 1052C>T; T351I
PubMed Link: 35313924
Variant Present in the following documents:
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: rs1800086
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1800086
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology
Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT
Publication Date: 2010-08

Variant appearance in text: CFTR: T351I
PubMed Link: 20224422
Variant Present in the following documents:
  • Main text
View BVdb publication page