MYL2 c.169G>C ;(p.G57R)

Variant ID: 12-111353519-C-G

NM_000432.3(MYL2):c.169G>C;(p.G57R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: CMH10: G57R; rs2428140
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MYL2: G57R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

American Journal Of Medical Genetics. Part A
Caleshu, Colleen C; Sakhuja, Rahul R; Nussbaum, Robert L RL; Schiller, Nelson B NB; Ursell, Philip C PC; Eng, Celeste C; De Marco, Teresa T; McGlothlin, Dana D; Burchard, Esteban González EG; Rame, J Eduardo JE
Publication Date: 2011-09

Variant appearance in text: MYL2: Gly57Arg; rs2428140
PubMed Link: 21823217
Variant Present in the following documents:
  • Main text
View BVdb publication page