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MYL2 c.58A>T ;(p.M20L)
Variant ID: 12-111356943-T-A
NM_000432.3(
MYL2
):c.58A>T;(p.M20L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: M20L
PubMed Link:
31131433
Variant Present in the following documents:
Main text
View BVdb publication page
Pseudophosphorylation of cardiac myosin regulatory light chain: a promising new tool for treatment of cardiomyopathy.
Biophysical Reviews
Yadav, Sunil S; Szczesna-Cordary, Danuta D
Publication Date: 2017-02
Variant appearance in text: MYL2: M20L
PubMed Link:
28510043
Variant Present in the following documents:
Main text
View BVdb publication page
Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.
Biochemistry
Burghardt, Thomas P TP; Sikkink, Laura A LA
Publication Date: 2013-02-19
Variant appearance in text: MYL2: M20L
PubMed Link:
23343568
Variant Present in the following documents:
Main text
View BVdb publication page