CFTR c.287C>A ;(p.A96E)

Variant ID: 7-117170966-C-A

NM_000492.3(CFTR):c.287C>A;(p.A96E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


miR-125b Promotes Colorectal Cancer Migration and Invasion by Dual-Targeting CFTR and CGN.

Cancers
Zhang, Xiaohui X; Li, Tingyu T; Han, Ya-Nan YN; Ge, Minghui M; Wang, Pei P; Sun, Lina L; Liu, Hao H; Cao, Tianyu T; Nie, Yongzhan Y; Fan, Daiming D; Guo, Hao H; Wu, Kaichun K; Zhao, Xiaodi X; Lu, Yuanyuan Y
Publication Date: 2021-11-15

Variant appearance in text: CFTR: A96E
PubMed Link: 34830864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Phenotypic Presentations of Cystic Fibrosis in Children of African Descent.

Genes
Mayer Lacrosniere, Sophie S; Gerardin, Michele M; Clainche-Viala, Laurence Le LL; Houdouin, Veronique V
Publication Date: 2021-03-23

Variant appearance in text: CFTR: A96E
PubMed Link: 33807078
Variant Present in the following documents:
  • Main text
  • genes-12-00458.pdf
View BVdb publication page



A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine
Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM
Publication Date: 2020-09-22

Variant appearance in text: CFTR: 287C>A; A96E; rs397508449
PubMed Link: 32971794
Variant Present in the following documents:
  • jpm-10-00140-s001.pdf
View BVdb publication page



Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

Bmc Medical Genetics
Petrova, N V NV; Kashirskaya, N Y NY; Saydaeva, D K DK; Polyakov, A V AV; Adyan, T A TA; Simonova, O I OI; Gorinova, Y V YV; Kondratyeva, E I EI; Sherman, V D VD; Novoselova, O G OG; Vasilyeva, T A TA; Marakhonov, A V AV; Macek, M M; Ginter, E K EK; Zinchenko, R A RA
Publication Date: 2019-03-21

Variant appearance in text: CFTR: 287C>A; Ala96Glu
PubMed Link: 30898088
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_785.pdf
View BVdb publication page