TNNT2 c.863G>C ;(p.R288P)

Variant ID: 1-201328372-C-G

NM_001276345.1(TNNT2):c.863G>C;(p.R288P)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: N/A
PubMed Link: 36755093
Variant Present in the following documents:
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs397516484
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs397516484
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Actionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.

Journal Of Human Genetics
Chetruengchai, Wanna W; Shotelersuk, Vorasuk V
Publication Date: 2022-03

Variant appearance in text: TNNT2: 863G>C; Arg288Pro
PubMed Link: 34621001
Variant Present in the following documents:
  • nihms-1795698.pdf
View BVdb publication page



Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine
Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L
Publication Date: 2021-06-14

Variant appearance in text: rs397516484
PubMed Link: 34127679
Variant Present in the following documents:
  • 41525_2021_204_MOESM1_ESM.pdf
View BVdb publication page



Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

Data In Brief
Dejgaard, Lars A LA; Haland, Trine F TF; Lie, Oyvind H OH; Ribe, Margareth M; Bjune, Thea T; Leren, Ida Skrinde IS; Berge, Knut Erik KE; Edvardsen, Thor T; Haugaa, Kristina H KH
Publication Date: 2017-12

Variant appearance in text: rs397516484
PubMed Link: 28971120
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: rs397516484
PubMed Link: 28771489
Variant Present in the following documents:
  • pone.0181465.s002.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: TNNT2: R288P
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 4
  • gkn1008_nar-01723-s-2008-File010.xls, sheet 4
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 4
View BVdb publication page