Bibliome.ai browser hg19
Search
About
Stats
FAQ
CFTR c.283_285delinsGAC ;(p.K95D)
Variant ID: 7-117170962-AAA-GAC
NM_000492.3(
CFTR
):c.283_285delinsGAC;(p.K95D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
VAMP-associated Proteins (VAP) as Receptors That Couple Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Proteostasis with Lipid Homeostasis.
The Journal Of Biological Chemistry
Ernst, Wayne L WL; Shome, Kuntala K; Wu, Christine C CC; Gong, Xiaoyan X; Frizzell, Raymond A RA; Aridor, Meir M
Publication Date: 2016-03-04
Variant appearance in text: CFTR: K95D
PubMed Link:
26740627
Variant Present in the following documents:
Main text
View BVdb publication page
Halide permeation in wild-type and mutant cystic fibrosis transmembrane conductance regulator chloride channels.
The Journal Of General Physiology
Tabcharani, J A JA; Linsdell, P P; Hanrahan, J W JW
Publication Date: 1997-10
Variant appearance in text: CFTR: K95D
PubMed Link:
9379167
Variant Present in the following documents:
Main text
View BVdb publication page
Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.
The Journal Of General Physiology
Cheung, M M; Akabas, M H MH
Publication Date: 1997-03
Variant appearance in text: CFTR: K95D
PubMed Link:
9089437
Variant Present in the following documents:
Main text
7357.pdf
View BVdb publication page