CFTR c.3874_3876delinsGAC ;(p.K1292D)

Variant ID: 7-117292896-AAA-GAC

NM_000492.3(CFTR):c.3874_3876delinsGAC;(p.K1292D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Plos One
Ivey, Gabrianne G; Youker, Robert T RT
Publication Date: 2020

Variant appearance in text: CFTR: K1292D
PubMed Link: 31978131
Variant Present in the following documents:
  • Main text
  • pone.0227668.pdf
View BVdb publication page



Stabilization of a nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator yields insight into disease-causing mutations.

The Journal Of Biological Chemistry
Vernon, Robert M RM; Chong, P Andrew PA; Lin, Hong H; Yang, Zhengrong Z; Zhou, Qingxian Q; Aleksandrov, Andrei A AA; Dawson, Jennifer E JE; Riordan, John R JR; Brouillette, Christie G CG; Thibodeau, Patrick H PH; Forman-Kay, Julie D JD
Publication Date: 2017-08-25

Variant appearance in text: CFTR: K1292D
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
View BVdb publication page