OCA2 c.770C>A ;(p.A257D)

Variant ID: 15-28263580-G-T

NM_000275.2(OCA2):c.770C>A;(p.A257D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Role of Genetic Variations in the Hepatic Handling of Drugs.

International Journal Of Molecular Sciences
Marin, Jose J G JJG; Serrano, Maria A MA; Monte, Maria J MJ; Sanchez-Martin, Anabel A; Temprano, Alvaro G AG; Briz, Oscar O; Romero, Marta R MR
Publication Date: 2020-04-20

Variant appearance in text: rs1050968
PubMed Link: 32326111
Variant Present in the following documents:
  • Main text
  • ijms-21-02884.pdf
View BVdb publication page



Longitudinal analysis of treatment-induced genomic alterations in gliomas.

Genome Medicine
Erson-Omay, E Zeynep EZ; Henegariu, Octavian O; Omay, S Bülent SB; Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Mishra-Gorur, Ketu K; Li, Jie J; Özduman, Koray K; Carrión-Grant, Geneive G; Clark, Victoria E VE; Çağlar, Caner C; Bakırcıoğlu, Mehmet M; Pamir, M Necmettin MN; Tabar, Viviane V; Vortmeyer, Alexander O AO; Bilguvar, Kaya K; Yasuno, Katsuhito K; DeAngelis, Lisa M LM; Baehring, Joachim M JM; Moliterno, Jennifer J; Günel, Murat M
Publication Date: 2017-02-02

Variant appearance in text: OCA2: A257D
PubMed Link: 28153049
Variant Present in the following documents:
  • 13073_2017_401_MOESM3_ESM.xlsx, sheet 2
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: OCA2: A257D; rs1050968
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: A257D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page



Cerivastatin in vitro metabolism by CYP2C8 variants found in patients experiencing rhabdomyolysis.

Pharmacogenetics And Genomics
Kaspera, Rüdiger R; Naraharisetti, Suresh B SB; Tamraz, Bani B; Sahele, Tariku T; Cheesman, Matthew J MJ; Kwok, Pui-Yan PY; Marciante, Kristin K; Heckbert, Susan R SR; Psaty, Bruce M BM; Totah, Rheem A RA
Publication Date: 2010-10

Variant appearance in text: rs1050968
PubMed Link: 20739906
Variant Present in the following documents:
  • Main text
View BVdb publication page



A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics
Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA
Publication Date: 2007-02

Variant appearance in text: OCA2: Ala257Asp; rs1050968
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page