Bibliome.ai browser hg19
Search
About
Stats
FAQ
OCA2 c.1182G>C ;(p.M394I)
Variant ID: 15-28234747-C-G
NM_000275.2(
OCA2
):c.1182G>C;(p.M394I)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: OCA2: M394I
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: OCA2: M394I
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.
American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15
Variant appearance in text: OCA2: Met394Ile
PubMed Link:
20876667
Variant Present in the following documents:
Main text
View BVdb publication page