TTN c.703G>A ;(p.A235T)

Variant ID: 2-179664425-C-T

NM_001267550.1(TTN):c.703G>A;(p.A235T)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: TTN: A235T
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: TTN: A235T
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Journal Of Diabetes Research
Li, Meng M; Han, Xueyao X; Ji, Linong L
Publication Date: 2021

Variant appearance in text: TMD: A235T
PubMed Link: 34631896
Variant Present in the following documents:
  • JDR2021-9479268.pdf
View BVdb publication page



Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

American Journal Of Human Genetics
Schwartz, Charles E CE; May, Melanie M MM; Carpenter, Nancy J NJ; Rogers, R Curtis RC; Martin, Judith J; Bialer, Martin G MG; Ward, Jewell J; Sanabria, Javier J; Marsa, Silvana S; Lewis, James A JA; Echeverri, Roberto R; Lubs, Herbert A HA; Voeller, Kytja K; Simensen, Richard J RJ; Stevenson, Roger E RE
Publication Date: 2005-07

Variant appearance in text:
PubMed Link: 15889350
Variant Present in the following documents:
  • Main text
View BVdb publication page