Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.C110Y
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TYRP1

NM_000550.3:p.C110Y

Associated Papers

Human TYRP1: Two functions for a single gene?

Gautron A et al.

Pigment Cell & Melanoma Research, 2021

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

Pennamen P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Onojafe IF et al.

Investigative Ophthalmology & Visual Science, 2018

The brown coat colour of Coppernecked goats is associated with a non-synonymous variant at the TYRP1 locus on chromosome 8.

Becker D et al.

Animal Genetics, 2015

Tyrp1 and oculocutaneous albinism type 3.

Sarangarajan R et al.

Pigment Cell Research, 2001

Oculocutaneous albinism types 1 and 3 are ER retention diseases: mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins.

Toyofuku K et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2001

The genetics of pigment dispersion syndrome and pigmentary glaucoma.

Lascaratos G et al.

Survey of Ophthalmology, 0

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