rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
1695717
1990
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
1710600
1991
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
1284529
1992
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
8406518
1993
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
7683628
1993
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
7524909
1994
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration.
7543567
1995
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
8522333
1995
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes.
8956039
1996
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
8723693
1996
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
8829633
1996
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
9452073
1998
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
9554753
1998
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
9452054
1998
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
12167682
2002
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
12529365
2003
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
15528182
2005
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
16822950
2007
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
BEFREE
The new complex allele partially explains the variable phenotype in CF subjects with the L997F mutation.
20706124
2010
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
20008117
2010
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
UNIPROT
Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
20150177
2010
rs1800111
×
Entrez Id:
1080
Gene Symbol:
CFTR
CFTR
Cystic Fibrosis
0.720
GeneticVariation
BEFREE
Furthermore, five of six compounds heterozygous with the p.[Arg117Leu;Leu997Phe ] had mild CF , whereas the p.Leu997Phe, <i>in trans</i> with a class I-II <i>CFTR</i> mutation, caused CFTR-RD or a healthy status (CFTR activity: 21.3-36.9%).
27738188
2017