CFTR c.3850_3852delinsTGT ;(p.K1284C)

Variant ID: 7-117282624-AAA-TGT

NM_000492.3(CFTR):c.3850_3852delinsTGT;(p.K1284C)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
He, Lihua L; Aleksandrov, Luba A LA; Cui, Liying L; Jensen, Timothy J TJ; Nesbitt, Kenneth L KL; Riordan, John R JR
Publication Date: 2010-08

Variant appearance in text: CFTR: K1284C
PubMed Link: 20233947
Variant Present in the following documents:
  • Main text
View BVdb publication page