MYL2 c.281A>C ;(p.D94A)

Variant ID: 12-111351122-T-G

NM_000432.3(MYL2):c.281A>C;(p.D94A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Molecular basis of force-pCa relation in MYL2 cardiomyopathy mice: Role of the super-relaxed state of myosin.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Yuan, Chen-Ching CC; Kazmierczak, Katarzyna K; Liang, Jingsheng J; Ma, Weikang W; Irving, Thomas C TC; Szczesna-Cordary, Danuta D
Publication Date: 2022-02-22

Variant appearance in text: MYL2: D94A
PubMed Link: 35177471
Variant Present in the following documents:
  • pnas.2110328119.sapp.pdf
View BVdb publication page



Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.

Plos Genetics
Manivannan, Sathiya N SN; Darouich, Sihem S; Masmoudi, Aida A; Gordon, David D; Zender, Gloria G; Han, Zhe Z; Fitzgerald-Butt, Sara S; White, Peter P; McBride, Kim L KL; Kharrat, Maher M; Garg, Vidu V
Publication Date: 2020-05

Variant appearance in text: MYL2: D94A
PubMed Link: 32453731
Variant Present in the following documents:
  • Main text
  • pgen.1008639.pdf
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Retrospective Study of Intercalated Disk Defects Associated with Dilated Cardiomyopathy, Atrial Thrombosis, and Heart Failure in BALB/c Mice Deficient in IL4 Receptor α.

Comparative Medicine
Gozalo, Alfonso S AS; Zerfas, Patricia M PM; Elkins, William R WR; Gieseck, Richard L RL
Publication Date: 2020-06-01

Variant appearance in text: MYL2: D94A
PubMed Link: 32384942
Variant Present in the following documents:
  • Main text
View BVdb publication page



Direct Sarcomere Modulators Are Promising New Treatments for Cardiomyopathies.

International Journal Of Molecular Sciences
Tsukamoto, Osamu O
Publication Date: 2019-12-28

Variant appearance in text: MYL2: D94A
PubMed Link: 31905684
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility
Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D
Publication Date: 2020-12

Variant appearance in text: MYL2: D94A
PubMed Link: 31131433
Variant Present in the following documents:
  • Main text
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MYL2: D94A
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Functions of myosin light chain-2 (MYL2) in cardiac muscle and disease.

Gene
Sheikh, Farah F; Lyon, Robert C RC; Chen, Ju J
Publication Date: 2015-09-10

Variant appearance in text: MYL2: D94A
PubMed Link: 26074085
Variant Present in the following documents:
  • Main text
View BVdb publication page