Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.H215Y
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TYRP1

NM_000550.3:p.H215Y

Associated Papers

Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype.

Peterson SM et al.

G3 (bethesda, Md.), 2023

37522525 (PubMed )
Supplement: jkad168_supplementary_data.zip › STables_Peterson_etal.xlsx › Supplementary_Table_1

In vitro characterization of the intramelanosomal domain of human recombinant TYRP1 and its oculocutaneous albinism type 3-related mutant variants.

Dolinska MB et al.

Protein Science : a Publication of the Protein Society, 2023

Tyrp1 Mutant Variants Associated with OCA3: Computational Characterization of Protein Stability and Ligand Binding.

Patel MH et al.

International Journal of Molecular Sciences, 2021

A missense mutation in TYRP1 causes the chocolate plumage color in chicken and alters melanosome structure.

Li J et al.

Pigment Cell & Melanoma Research, 2019

Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.

Lai X et al.

Angewandte Chemie (international Ed. in English), 2017

[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].

Xu B et al.

Zhonghua Yi Xue Za Zhi, 2012

Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.

Zhang KH et al.

Cell Biochemistry and Biophysics, 2011

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