TTN c.85380A>G ;(p.I28460M)

Variant ID: 2-179425479-T-C

NM_001267550.1(TTN):c.85380A>G;(p.I28460M)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Specific TP53 subtype as biomarker for immune checkpoint inhibitors in lung adenocarcinoma.

Ebiomedicine
Sun, Hao H; Liu, Si-Yang SY; Zhou, Jia-Ying JY; Xu, Jin-Tian JT; Zhang, Huang-Kai HK; Yan, Hong-Hong HH; Huan, Jiao-Jiao JJ; Dai, Ping-Ping PP; Xu, Chong-Rui CR; Su, Jian J; Guan, Yan-Fang YF; Yi, Xin X; Yu, Rong-Shan RS; Zhong, Wen-Zhao WZ; Wu, Yi-Long YL
Publication Date: 2020-10

Variant appearance in text: TTN: I28460M
PubMed Link: 32927274
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy.

Scientific Reports
Akinrinade, Oyediran O; Heliƶ, Tiina T; Lekanne Deprez, Ronald H RH; Jongbloed, Jan D H JDH; Boven, Ludolf G LG; van den Berg, Maarten P MP; Pinto, Yigal M YM; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S; Spaendonck-Zwarts, Karin van KV; van Tintelen, J Peter JP; van der Zwaag, Paul A PA; Koskenvuo, Juha J
Publication Date: 2019-03-11

Variant appearance in text: TTN: 85380A>G; Ile28460Met
PubMed Link: 30858397
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_39911.pdf
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: TTN: I28460M
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page