TTN c.1850C>T ;(p.T617I)

Variant ID: 2-179654793-G-A

NM_001267550.1(TTN):c.1850C>T;(p.T617I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Proteomic and phosphoproteomic landscapes of acute myeloid leukemia.

Blood
Kramer, Michael H MH; Zhang, Qiang Q; Sprung, Robert R; Day, Ryan B RB; Erdmann-Gilmore, Petra P; Li, Yang Y; Xu, Ziheng Z; Helton, Nichole M NM; George, Daniel R DR; Mi, Yiling Y; Westervelt, Peter P; Payton, Jacqueline E JE; Ramakrishnan, Sai M SM; Miller, Christopher A CA; Link, Daniel C DC; DiPersio, John F JF; Walter, Matthew J MJ; Townsend, R Reid RR; Ley, Timothy J TJ
Publication Date: 2022-09-29

Variant appearance in text: TTN: T617I
PubMed Link: 35895896
Variant Present in the following documents:
  • 10.1182-2022016033_bloodbld2022016033-suppl3.xlsx, sheet 2
  • bloodBLD2022016033-suppl3.xlsx, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TTN: T617I
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TTN: 1850C>T; T617I
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



JAK2 activation by growth hormone and other cytokines.

The Biochemical Journal
Waters, Michael J MJ; Brooks, Andrew J AJ
Publication Date: 2015-02-15

Variant appearance in text: TMD: T617I
PubMed Link: 25656053
Variant Present in the following documents:
  • Main text
  • bj4660001.pdf
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: TTN: T617I
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page