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.




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