CFTR c.467T>G ;(p.M156R)

Variant ID: 7-117171146-T-G

NM_000492.3(CFTR):c.467T>G;(p.M156R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


CFTR Modulator Therapy Enhances Peripheral Blood Monocyte Contributions to Immune Responses in People With Cystic Fibrosis.

Frontiers In Pharmacology
Hisert, Katherine B KB; Birkland, Timothy P TP; Schoenfelt, Kelly Q KQ; Long, Matthew E ME; Grogan, Brenda B; Carter, Suzanne S; Liles, W Conrad WC; McKone, Edward F EF; Becker, Lev L; Manicone, Anne M AM; Gharib, Sina A SA
Publication Date: 2020

Variant appearance in text: CFTR: M156R
PubMed Link: 33013356
Variant Present in the following documents:
  • Main text
  • fphar-11-01219.pdf
View BVdb publication page



Ivacaftor modifies cystic fibrosis neutrophil phenotype in subjects with R117H residual function CFTR mutations.

The European Respiratory Journal
Hardisty, Gareth R GR; Law, Sheonagh M SM; Carter, Suzanne S; Grogan, Brenda B; Singh, Pradeep K PK; McKone, Edward F EF; Gray, Robert D RD
Publication Date: 2021-01

Variant appearance in text: CFTR: M156R
PubMed Link: 32855222
Variant Present in the following documents:
  • Main text
  • ERJ-02161-2020.pdf
View BVdb publication page



Ivacaftor decreases monocyte sensitivity to interferon-γ in people with cystic fibrosis.

Erj Open Research
Hisert, Katherine B KB; Birkland, Timothy P TP; Schoenfelt, Kelly Q KQ; Long, Matthew E ME; Grogan, Brenda B; Carter, Suzanne S; Liles, W Conrad WC; McKone, Edward F EF; Becker, Lev L; Manicone, Anne M AM
Publication Date: 2020-04

Variant appearance in text: CFTR: M156R
PubMed Link: 32337217
Variant Present in the following documents:
  • Main text
  • 00318-2019.pdf
View BVdb publication page