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CFTR c.2772C>G ;(p.D924E)
Variant ID: 7-117243700-C-G
NM_000492.3(
CFTR
):c.2772C>G;(p.D924E)
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:
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: D924E
PubMed Link:
31164398
Variant Present in the following documents:
Main text
JGP_201912360.pdf
View BVdb publication page
Extrachromosomal driver mutations in glioblastoma and low-grade glioma.
Nature Communications
Nikolaev, Sergey S; Santoni, Federico F; Garieri, Marco M; Makrythanasis, Periklis P; Falconnet, Emilie E; Guipponi, Michel M; Vannier, Anne A; Radovanovic, Ivan I; Bena, Frederique F; Forestier, Françoise F; Schaller, Karl K; Dutoit, Valerie V; Clement-Schatlo, Virginie V; Dietrich, Pierre-Yves PY; Antonarakis, Stylianos E SE
Publication Date: 2014-12-04
Variant appearance in text: CFTR: D924E
PubMed Link:
25471132
Variant Present in the following documents:
NIHMS60838-supplement-Supplementary_Data_2.xlsx, sheet 2
View BVdb publication page
Sequence-specific retention and regulated integration of a nascent membrane protein by the endoplasmic reticulum Sec61 translocon.
Molecular Biology Of The Cell
Pitonzo, David D; Yang, Zhongying Z; Matsumura, Yoshihiro Y; Johnson, Arthur E AE; Skach, William R WR
Publication Date: 2009-01
Variant appearance in text: CFTR: D924E
PubMed Link:
19019984
Variant Present in the following documents:
Main text
View BVdb publication page