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CFTR c.1090T>G ;(p.S364A)
Variant ID: 7-117180374-T-G
NM_000492.3(
CFTR
):c.1090T>G;(p.S364A)
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:
Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.
The Journal Of General Physiology
Yeh, Han-I HI; Qiu, Liming L; Sohma, Yoshiro Y; Conrath, Katja K; Zou, Xiaoqin X; Hwang, Tzyh-Chang TC
Publication Date: 2019-07-01
Variant appearance in text: CFTR: S364A
PubMed Link:
31164398
Variant Present in the following documents:
Main text
JGP_201912360.pdf
View BVdb publication page
Ser364 of connexin43 and the upregulation of gap junction assembly by cAMP.
The Journal Of Cell Biology
TenBroek, E M EM; Lampe, P D PD; Solan, J L JL; Reynhout, J K JK; Johnson, R G RG
Publication Date: 2001-12-24
Variant appearance in text: CFTR: S364A
PubMed Link:
11756479
Variant Present in the following documents:
0102017.pdf
View BVdb publication page