CFTR c.2050_2051delinsCT ;(p.K684L)

Variant ID: 7-117232271-AA-CT

NM_000492.3(CFTR):c.2050_2051delinsCT;(p.K684L)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Replacement of the positively charged Walker A lysine residue with a hydrophobic leucine residue and conformational alterations caused by this mutation in MRP1 impair ATP binding and hydrolysis.

The Biochemical Journal
Buyse, Frederic F; Hou, Yue-xian YX; Vigano, Catherine C; Zhao, Qing Q; Ruysschaert, Jean-Marie JM; Chang, Xiu-bao XB
Publication Date: 2006-07-01

Variant appearance in text: CFTR: K684L
PubMed Link: 16551273
Variant Present in the following documents:
  • Main text
View BVdb publication page