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CFTR c.1962T>G ;(p.S654R)
Variant ID: 7-117232183-T-G
NM_000492.3(
CFTR
):c.1962T>G;(p.S654R)
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:
YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.
Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03
Variant appearance in text: CFTR: S654R
PubMed Link:
31900393
Variant Present in the following documents:
41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page
RNA mis-splicing in disease.
Nature Reviews. Genetics
Scotti, Marina M MM; Swanson, Maurice S MS
Publication Date: 2016-01
Variant appearance in text: CFTR: 1962T>G
PubMed Link:
26593421
Variant Present in the following documents:
Main text
View BVdb publication page