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CFTR c.1108A>C ;(p.K370Q)
Variant ID: 7-117180392-A-C
NM_000492.3(
CFTR
):c.1108A>C;(p.K370Q)
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:
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: K370Q
PubMed Link:
29581173
Variant Present in the following documents:
Main text
JGP_201711946.pdf
View BVdb publication page
Functional organization of cytoplasmic portals controlling access to the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel pore.
The Journal Of Biological Chemistry
Li, Man-Song MS; Cowley, Elizabeth A EA; El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2018-04-13
Variant appearance in text: CFTR: K370Q
PubMed Link:
29475947
Variant Present in the following documents:
Main text
View BVdb publication page