CFTR c.3874A>G ;(p.K1292E)

Variant ID: 7-117292896-A-G

NM_000492.3(CFTR):c.3874A>G;(p.K1292E)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


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: K1292E
PubMed Link: 28655774
Variant Present in the following documents:
  • Main text
View BVdb publication page