TYR c.155G>T ;(p.R52I)

Variant ID: 11-88911276-G-T

NM_000372.4(TYR):c.155G>T;(p.R52I)

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: OCA1A: R52I
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: TYR: R52I
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.

Molecular Medicine Reports
Ko, Jung Min JM; Yang, Jung-Ah JA; Jeong, Seon-Yong SY; Kim, Hyon-Ju HJ
Publication Date: 2012-04

Variant appearance in text: OCA1: 155G>T
PubMed Link: 22294196
Variant Present in the following documents:
  • Main text
  • mmr-05-04-0943.pdf
View BVdb publication page