CFTR c.481T>G ;(p.Y161D)

Variant ID: 7-117171160-T-G

NM_000492.3(CFTR):c.481T>G;(p.Y161D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: CFTR: 481T>G; Tyr161Asp
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: Y161D
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: 481T>G; Y161D
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page