TNNT2 c.133G>A ;(p.E45K)

Variant ID: 1-201337320-C-T

NM_001276345.1(TNNT2):c.133G>A;(p.E45K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology
Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J
Publication Date: 2016-05

Variant appearance in text: TNNT2: E45K
PubMed Link: 27224906
Variant Present in the following documents:
  • pcbi.1004962.s005.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.

Oncotarget
Cifola, Ingrid I; Lionetti, Marta M; Pinatel, Eva E; Todoerti, Katia K; Mangano, Eleonora E; Pietrelli, Alessandro A; Fabris, Sonia S; Mosca, Laura L; Simeon, Vittorio V; Petrucci, Maria Teresa MT; Morabito, Fortunato F; Offidani, Massimo M; Di Raimondo, Francesco F; Falcone, Antonietta A; Caravita, Tommaso T; Battaglia, Cristina C; De Bellis, Gianluca G; Palumbo, Antonio A; Musto, Pellegrino P; Neri, Antonino A
Publication Date: 2015-07-10

Variant appearance in text: TNNT2: E45K
PubMed Link: 26046463
Variant Present in the following documents:
  • oncotarget-06-17543-s002.xls, sheet 1
View BVdb publication page



Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.

Journal Of The American College Of Cardiology
Lakdawala, Neal K NK; Dellefave, Lisa L; Redwood, Charles S CS; Sparks, Elizabeth E; Cirino, Allison L AL; Depalma, Steve S; Colan, Steven D SD; Funke, Birgit B; Zimmerman, Rebekah S RS; Robinson, Paul P; Watkins, Hugh H; Seidman, Christine E CE; Seidman, J G JG; McNally, Elizabeth M EM; Ho, Carolyn Y CY
Publication Date: 2010-01-26

Variant appearance in text: TNNT2: E45K
PubMed Link: 20117437
Variant Present in the following documents:
  • Main text
View BVdb publication page