CFTR c.751_753delinsTGT ;(p.R251C)

Variant ID: 7-117176609-AGA-TGT

NM_000492.3(CFTR):c.751_753delinsTGT;(p.R251C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Structural mechanisms of CFTR function and dysfunction.

The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02

Variant appearance in text: CFTR: R251C
PubMed Link: 29581173
Variant Present in the following documents:
  • JGP_201711946_TableS1.pdf
View BVdb publication page



Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10

Variant appearance in text: CFTR/MRP: R251C
PubMed Link: 28186126
Variant Present in the following documents:
  • ncomms14262-s5.xlsx, sheet 2
View BVdb publication page



Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

The Journal Of Biological Chemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2015-06-19

Variant appearance in text: CFTR: R251C
PubMed Link: 25944907
Variant Present in the following documents:
  • Main text
View BVdb publication page