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