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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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