MYOC c.985G>A ;(p.V329M)

Variant ID: 1-171605595-C-T

NM_000261.1(MYOC):c.985G>A;(p.V329M)

This variant was identified in 8 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: V329M
PubMed Link: 36579626
Variant Present in the following documents:
  • Main text
  • dmm-16-049816-s1.pdf
View BVdb publication page



Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.

Frontiers In Genetics
Zhou, Biting B; Lin, Xiaojia X; Li, Zhong Z; Yao, Yihua Y; Yang, Juhua J; Zhu, Yihua Y
Publication Date: 2022

Variant appearance in text: MYOC: V329M
PubMed Link: 36267417
Variant Present in the following documents:
  • Main text
  • fgene-13-1019208.pdf
  • Table2.xlsx, sheet 1
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: V329M
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Genetic modifiers of long-term survival in sickle cell anemia.

Clinical And Translational Medicine
Wonkam, Ambroise A; Chimusa, Emile R ER; Mnika, Khuthala K; Pule, Gift Dineo GD; Ngo Bitoungui, Valentina Josiane VJ; Mulder, Nicola N; Shriner, Daniel D; Rotimi, Charles N CN; Adeyemo, Adebowale A
Publication Date: 2020-08

Variant appearance in text: rs146391864
PubMed Link: 32898326
Variant Present in the following documents:
  • CTM2-10-e152-s001.pdf
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: MYOC: V329M
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
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: V329M; rs146391864
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: V329M
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

Molecular Vision
Liu, Wenjing W; Liu, Yutao Y; Challa, Pratap P; Herndon, Leon W LW; Wiggs, Janey L JL; Girkin, Christopher A CA; Allingham, R Rand RR; Hauser, Michael A MA
Publication Date: 2012

Variant appearance in text: MYOC: Val329Met
PubMed Link: 22933836
Variant Present in the following documents:
  • Main text
  • mv-v18-2241.pdf
View BVdb publication page