CFTR c.3253C>T ;(p.H1085Y)

Variant ID: 7-117251748-C-T

NM_000492.3(CFTR):c.3253C>T;(p.H1085Y)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Transcription rate strongly affects splicing fidelity and cotranscriptionality in budding yeast.

Genome Research
Aslanzadeh, Vahid V; Huang, Yuanhua Y; Sanguinetti, Guido G; Beggs, Jean D JD
Publication Date: 2018-02

Variant appearance in text: CFTR: H1085Y
PubMed Link: 29254943
Variant Present in the following documents:
  • Main text
  • 203.pdf
View BVdb publication page



Pre-mRNA splicing is facilitated by an optimal RNA polymerase II elongation rate.

Genes & Development
Fong, Nova N; Kim, Hyunmin H; Zhou, Yu Y; Ji, Xiong X; Qiu, Jinsong J; Saldi, Tassa T; Diener, Katrina K; Jones, Ken K; Fu, Xiang-Dong XD; Bentley, David L DL
Publication Date: 2014-12-01

Variant appearance in text: CFTR: H1085Y
PubMed Link: 25452276
Variant Present in the following documents:
  • Main text
  • 2663.pdf
View BVdb publication page