MYOC c.1273T>C ;(p.S425P)

Variant ID: 1-171605307-A-G

NM_000261.1(MYOC):c.1273T>C;(p.S425P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: S425P
PubMed Link: 36267417
Variant Present in the following documents:
  • Main text
  • Table2.xlsx, sheet 1
  • fgene-13-1019208.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: S425P
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: S425P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: MYOC: S425P
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File008.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File006.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File007.xls, sheet 1
  • gkn1008_nar-01723-s-2008-File010.xls, sheet 1
View BVdb publication page