MYOC c.1054G>C ;(p.E352Q)

Variant ID: 1-171605526-C-G

NM_000261.1(MYOC):c.1054G>C;(p.E352Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structural basis for misfolding in myocilin-associated glaucoma.

Human Molecular Genetics
Donegan, Rebecca K RK; Hill, Shannon E SE; Freeman, Dana M DM; Nguyen, Elaine E; Orwig, Susan D SD; Turnage, Katherine C KC; Lieberman, Raquel L RL
Publication Date: 2015-04-15

Variant appearance in text: rs61745146
PubMed Link: 25524706
Variant Present in the following documents:
  • Main text
View BVdb publication page



The stability of myocilin olfactomedin domain variants provides new insight into glaucoma as a protein misfolding disorder.

Biochemistry
Burns, J Nicole JN; Turnage, Katherine C KC; Walker, Chandler A CA; Lieberman, Raquel L RL
Publication Date: 2011-07-05

Variant appearance in text: rs61745146
PubMed Link: 21612213
Variant Present in the following documents:
  • Main text
View BVdb publication page