MYH7 c.4327G>A ;(p.D1443N)

Variant ID: 14-23886738-C-T

NM_000257.2(MYH7):c.4327G>A;(p.D1443N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: MYH7: 4327G>A; D1443N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
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: 4327G>A; Asp1443Asn
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: 4327G>A; Asp1443Asn
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page