MYOC c.1300G>A ;(p.G434S)

Variant ID: 1-171605280-C-T

NM_000261.1(MYOC):c.1300G>A;(p.G434S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Disambiguation of benign and misfolded glaucoma-causing myocilin variants on the basis of protein thermal stability.

Disease Models & Mechanisms
Scelsi, Hailee F HF; Hill, Kamisha R KR; Barlow, Brett M BM; Martin, Mackenzie D MD; Lieberman, Raquel L RL
Publication Date: 2022-12-29

Variant appearance in text: MYOC: 1300G>A
PubMed Link: 36579626
Variant Present in the following documents:
  • dmm-16-049816-s1.pdf
View BVdb publication page



Comparative genomics of primary prostate cancer and paired metastases: insights from 12 molecular case studies.

The Journal Of Pathology
Cyrta, Joanna J; Prandi, Davide D; Arora, Arshi A; Hovelson, Daniel H DH; Sboner, Andrea A; Rodriguez, Antonio A; Fedrizzi, Tarcisio T; Beltran, Himisha H; Robinson, Dan R DR; Gopalan, Anuradha A; True, Lawrence L; Nelson, Peter S PS; Robinson, Brian D BD; Mosquera, Juan Miguel JM; Tomlins, Scott A SA; Shen, Ronglai R; Demichelis, Francesca F; Rubin, Mark A MA
Publication Date: 2022-07

Variant appearance in text: MYOC: G434S
PubMed Link: 35220606
Variant Present in the following documents:
  • PATH-257-274-s001.xlsx, sheet 4
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: MYOC: G434S
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.

Investigative Ophthalmology & Visual Science
Zadoo, Serena S; Nguyen, Annie A; Zode, Gulab G; Hulleman, John D JD
Publication Date: 2016-04-01

Variant appearance in text: MYOC: G434S
PubMed Link: 27092720
Variant Present in the following documents:
  • Main text
  • i1552-5783-57-4-1939.pdf
View BVdb publication page



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: GLC1A: G434S
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: MYOC: G434S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page