TTN c.41521G>A ;(p.D13841N)

Variant ID: 2-179500777-C-T

NM_001267550.1(TTN):c.41521G>A;(p.D13841N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology
Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,
Publication Date: 2022-09-17

Variant appearance in text: TTN: 41521G>A; Asp13841Asn; rs201257644
PubMed Link: 36124685
Variant Present in the following documents:
  • noac220_suppl_supplementary_table_s3.xlsx, sheet 1
View BVdb publication page



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: TTN: D13841N
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Acta Neuropathologica Communications
Savarese, Marco M; Di Fruscio, Giuseppina G; Mutarelli, Margherita M; Torella, Annalaura A; Magri, Francesca F; Santorelli, Filippo Maria FM; Comi, Giacomo Pietro GP; Bruno, Claudio C; Nigro, Vincenzo V
Publication Date: 2014-09-11

Variant appearance in text: TTN: D13841N
PubMed Link: 25214167
Variant Present in the following documents:
  • Main text
  • 40478_2014_Article_9100.pdf
View BVdb publication page