CFTR c.1936_1938delinsTGT ;(p.G646C)

Variant ID: 7-117232157-GGA-TGT

NM_000492.3(CFTR):c.1936_1938delinsTGT;(p.G646C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Ligand binding to a remote site thermodynamically corrects the F508del mutation in the human cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Wang, Chi C; Aleksandrov, Andrei A AA; Yang, Zhengrong Z; Forouhar, Farhad F; Proctor, Elizabeth A EA; Kota, Pradeep P; An, Jianli J; Kaplan, Anna A; Khazanov, Netaly N; Boël, Grégory G; Stockwell, Brent R BR; Senderowitz, Hanoch H; Dokholyan, Nikolay V NV; Riordan, John R JR; Brouillette, Christie G CG; Hunt, John F JF
Publication Date: 2018-11-16

Variant appearance in text: CFTR: G646C
PubMed Link: 29903914
Variant Present in the following documents:
  • Main text
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