CFTR c.1657_1659delinsTGT ;(p.R553C)

Variant ID: 7-117227865-CGA-TGT

NM_000492.3(CFTR):c.1657_1659delinsTGT;(p.R553C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


En bloc liver and pancreas transplantation after total pancreatectomy with autologous islet transplantation.

European Journal Of Translational And Clinical Medicine
Generette, Gabriela S GS; Bachul, Piotr J PJ; Golab, Karolina K; Basto, Lindsay L; Pyda, Jordan S JS; Borek, Peter P; Tibudan, Martin M; Anteby, Roi R; Perea, Laurencia L; Charlton, Michael M; Perez-Gutierrez, Angelica A; Jayant, Kumar K; Lucander, Aaron A; Matthews, Jeffrey B JB; Millis, J Michael JM; Fung, John J; Witkowski, Piotr P
Publication Date: 2020

Variant appearance in text: CFTR: R553c
PubMed Link: 33409500
Variant Present in the following documents:
  • Main text
  • nihms-1649868.pdf
View BVdb publication page



Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.

The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01

Variant appearance in text: CFTR: R553C
PubMed Link: 19114635
Variant Present in the following documents:
  • Main text
  • jgp1330069.pdf
View BVdb publication page