MYH7 c.1291G>C ;(p.V431L)

Variant ID: 14-23898280-C-G

NM_000257.2(MYH7):c.1291G>C;(p.V431L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications
Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM
Publication Date: 2022-06-29

Variant appearance in text: MYH7: 1291G>C
PubMed Link: 35768438
Variant Present in the following documents:
  • 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Proteomic and Functional Studies Reveal Detyrosinated Tubulin as Treatment Target in Sarcomere Mutation-Induced Hypertrophic Cardiomyopathy.

Circulation. Heart Failure
Schuldt, Maike M; Pei, Jiayi J; Harakalova, Magdalena M; Dorsch, Larissa M LM; Schlossarek, Saskia S; Mokry, Michal M; Knol, Jaco C JC; Pham, Thang V TV; Schelfhorst, Tim T; Piersma, Sander R SR; Dos Remedios, Cris C; Dalinghaus, Michiel M; Michels, Michelle M; Asselbergs, Folkert W FW; Moutin, Marie-Jo MJ; Carrier, Lucie L; Jimenez, Connie R CR; van der Velden, Jolanda J; Kuster, Diederik W D DWD
Publication Date: 2021-01

Variant appearance in text: MYH7: 1291G>C; V431L
PubMed Link: 33430602
Variant Present in the following documents:
  • hhf-14-e007022-s001.pdf
View BVdb publication page



Sex-specific cardiac remodeling in early and advanced stages of hypertrophic cardiomyopathy.

Plos One
Nijenkamp, Louise L A M LLAM; Bollen, Ilse A E IAE; Niessen, Hans W M HWM; Dos Remedios, Cris G CG; Michels, Michelle M; Poggesi, Corrado C; Ho, Carolyn Y CY; Kuster, Diederik W D DWD; van der Velden, Jolanda J
Publication Date: 2020

Variant appearance in text: MYH7: 1291G>C
PubMed Link: 32369506
Variant Present in the following documents:
  • Main text
  • pone.0232427.pdf
View BVdb publication page



Protein Quality Control Activation and Microtubule Remodeling in Hypertrophic Cardiomyopathy.

Cells
Dorsch, Larissa M LM; Schuldt, Maike M; dos Remedios, Cristobal G CG; Schinkel, Arend F L AFL; de Jong, Peter L PL; Michels, Michelle M; Kuster, Diederik W D DWD; Brundel, Bianca J J M BJJM; van der Velden, Jolanda J
Publication Date: 2019-07-18

Variant appearance in text: MYH7: 1291G>C; Val431Leu
PubMed Link: 31323898
Variant Present in the following documents:
  • Main text
  • cells-08-00741.pdf
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYH7: 1291G>C; Val431Leu
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page