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CFTR c.1652G>C ;(p.G551A)
Variant ID: 7-117227860-G-C
NM_000492.3(
CFTR
):c.1652G>C;(p.G551A)
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:
VX-770-mediated potentiation of numerous human CFTR disease mutants is influenced by phosphorylation level.
Scientific Reports
Cui, Guiying G; Stauffer, Brandon B BB; Imhoff, Barry R BR; Rab, Andras A; Hong, Jeong S JS; Sorscher, Eric J EJ; McCarty, Nael A NA
Publication Date: 2019-09-17
Variant appearance in text: CFTR: G551A
PubMed Link:
31530897
Variant Present in the following documents:
Main text
41598_2019_Article_49921.pdf
View BVdb publication page
Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel.
The Journal Of General Physiology
Wang, Xiaohui X; Bompadre, Silvia G SG; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2009-01
Variant appearance in text: CFTR: G551A
PubMed Link:
19114635
Variant Present in the following documents:
Main text
jgp1330069.pdf
View BVdb publication page
CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.
The Journal Of General Physiology
Wilkinson, D J DJ; Mansoura, M K MK; Watson, P Y PY; Smit, L S LS; Collins, F S FS; Dawson, D C DC
Publication Date: 1996-01
Variant appearance in text: CFTR: G551A
PubMed Link:
8741733
Variant Present in the following documents:
jg1071103.pdf
View BVdb publication page