CFTR c.421G>T ;(p.A141S)

Variant ID: 7-117171100-G-T

NM_000492.3(CFTR):c.421G>T;(p.A141S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03

Variant appearance in text: CFTR: A141S
PubMed Link: 35065958
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Stem Cell Reports
Hildebrandt, Matthew R MR; Reuter, Miriam S MS; Wei, Wei W; Tayebi, Naeimeh N; Liu, Jiajie J; Sharmin, Sazia S; Mulder, Jaap J; Lesperance, L Stephen LS; Brauer, Patrick M PM; Mok, Rebecca S F RSF; Kinnear, Caroline C; Piekna, Alina A; Romm, Asli A; Howe, Jennifer J; Pasceri, Peter P; Meng, Guoliang G; Rozycki, Matthew M; Rodrigues, Deivid C DC; Martinez, Elisa C EC; Szego, Michael J MJ; Zúñiga-Pflücker, Juan C JC; Anderson, Michele K MK; Prescott, Steven A SA; Rosenblum, Norman D ND; Kamath, Binita M BM; Mital, Seema S; Scherer, Stephen W SW; Ellis, James J
Publication Date: 2019-12-10

Variant appearance in text: CFTR: A141S
PubMed Link: 31813827
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page