TYR c.1064C>A ;(p.A355E)

Variant ID: 11-88961018-C-A

NM_000372.4(TYR):c.1064C>A;(p.A355E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research
Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV
Publication Date: 2018

Variant appearance in text: OCAIA: A355E
PubMed Link: 30868138
Variant Present in the following documents:
  • Main text
  • nihms-1008828.pdf
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: OCA1A: A355E
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: A355E
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page