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OCA2 c.1840A>G ;(p.K614E)
Variant ID: 15-28200306-T-C
NM_000275.2(
OCA2
):c.1840A>G;(p.K614E)
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: K614E
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: K614E
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page
An intracellular anion channel critical for pigmentation.
Elife
Bellono, Nicholas W NW; Escobar, Iliana E IE; Lefkovith, Ariel J AJ; Marks, Michael S MS; Oancea, Elena E
Publication Date: 2014-12-16
Variant appearance in text: OCA2: K614E
PubMed Link:
25513726
Variant Present in the following documents:
Main text
elife04543.pdf
View BVdb publication page