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CFTR c.1261A>G ;(p.T421A)
Variant ID: 7-117188746-A-G
NM_000492.3(
CFTR
):c.1261A>G;(p.T421A)
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:
A posttranslational modification code for CFTR maturation is altered in cystic fibrosis.
Science Signaling
Pankow, Sandra S; Bamberger, Casimir C; Yates, John R JR
Publication Date: 2019-01-01
Variant appearance in text: CFTR: T421A
PubMed Link:
30600261
Variant Present in the following documents:
Main text
View BVdb publication page
Activation mechanisms for the cystic fibrosis transmembrane conductance regulator protein involve direct binding of cAMP.
The Biochemical Journal
Pereira, Malcolm M C MM; Parker, Jody J; Stratford, Fiona L L FL; McPherson, Margaret M; Dormer, Robert L RL
Publication Date: 2007-07-01
Variant appearance in text: CFTR: T421A
PubMed Link:
17381427
Variant Present in the following documents:
Main text
View BVdb publication page