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CFTR c.1012A>T ;(p.T338S)
Variant ID: 7-117180296-A-T
NM_000492.3(
CFTR
):c.1012A>T;(p.T338S)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore.
Biophysical Journal
Liu, Xuehong X; Zhang, Zhi-Ren ZR; Fuller, Matthew D MD; Billingsley, Joshua J; McCarty, Nael A NA; Dawson, David C DC
Publication Date: 2004-12
Variant appearance in text: CFTR: T338S
PubMed Link:
15361410
Variant Present in the following documents:
Main text
View BVdb publication page
Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.
The Journal Of Physiology
Linsdell, P P
Publication Date: 2001-02-15
Variant appearance in text: CFTR: T338S
PubMed Link:
11179391
Variant Present in the following documents:
Main text
View BVdb publication page