TTN c.222C>A ;(p.N74K)

Variant ID: 2-179666938-G-T

NM_001267550.1(TTN):c.222C>A;(p.N74K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins
Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK
Publication Date: 2022-05

Variant appearance in text: TMD: N74K
PubMed Link: 34580920
Variant Present in the following documents:
  • Main text
  • PROT-9999-0.pdf
View BVdb publication page



Evolution of the SARS-CoV-2 proteome in three dimensions (3D) during the first 6 months of the COVID-19 pandemic.

Proteins
Lubin, Joseph H JH; Zardecki, Christine C; Dolan, Elliott M EM; Lu, Changpeng C; Shen, Zhuofan Z; Dutta, Shuchismita S; Westbrook, John D JD; Hudson, Brian P BP; Goodsell, David S DS; Williams, Jonathan K JK; Voigt, Maria M; Sarma, Vidur V; Xie, Lingjun L; Venkatachalam, Thejasvi T; Arnold, Steven S; Alfaro Alvarado, Luz Helena LH; Catalfano, Kevin K; Khan, Aaliyah A; McCarthy, Erika E; Staggers, Sophia S; Tinsley, Brea B; Trudeau, Alan A; Singh, Jitendra J; Whitmore, Lindsey L; Zheng, Helen H; Benedek, Matthew M; Currier, Jenna J; Dresel, Mark M; Duvvuru, Ashish A; Dyszel, Britney B; Fingar, Emily E; Hennen, Elizabeth M EM; Kirsch, Michael M; Khan, Ali A AA; Labrie-Cleary, Charlotte C; Laporte, Stephanie S; Lenkeit, Evan E; Martin, Kailey K; Orellana, Marilyn M; Ortiz-Alvarez de la Campa, Melanie M; Paredes, Isaac I; Wheeler, Baleigh B; Rupert, Allison A; Sam, Andrew A; See, Katherine K; Soto Zapata, Santiago S; Craig, Paul A PA; Hall, Bonnie L BL; Jiang, Jennifer J; Koeppe, Julia R JR; Mills, Stephen A SA; Pikaart, Michael J MJ; Roberts, Rebecca R; Bromberg, Yana Y; Hoyer, J Steen JS; Duffy, Siobain S; Tischfield, Jay J; Ruiz, Francesc X FX; Arnold, Eddy E; Baum, Jean J; Sandberg, Jesse J; Brannigan, Grace G; Khare, Sagar D SD; Burley, Stephen K SK
Publication Date: 2021-09-27

Variant appearance in text: TMD: N74K
PubMed Link: 34580920
Variant Present in the following documents:
  • Main text
  • PROT-9999-0.pdf
View BVdb publication page



SARS-CoV-2 mutations in Brazil: from genomics to putative clinical conditions.

Scientific Reports
Timmers, Luis Fernando Saraiva Macedo LFSM; Peixoto, Julia Vasconcellos JV; Ducati, Rodrigo Gay RG; Bachega, José Fernando Ruggiero JFR; de Mattos Pereira, Leandro L; Caceres, Rafael Andrade RA; Majolo, Fernanda F; da Silva, Guilherme Liberato GL; Anton, Débora Bublitz DB; Dellagostin, Odir Antônio OA; Henriques, João Antônio Pegas JAP; Xavier, Léder Leal LL; Goettert, Márcia Inês MI; Laufer, Stefan S
Publication Date: 2021-06-07

Variant appearance in text: TMD: N74K
PubMed Link: 34099808
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_91585.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TTN: N74K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Conformational pathway provides unique sensitivity to a synaptic mGluR.

Nature Communications
Habrian, Chris H CH; Levitz, Joshua J; Vyklicky, Vojtech V; Fu, Zhu Z; Hoagland, Adam A; McCort-Tranchepain, Isabelle I; Acher, Francine F; Isacoff, Ehud Y EY
Publication Date: 2019-12-05

Variant appearance in text: TMD: N74K
PubMed Link: 31804469
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_13407.pdf
View BVdb publication page