Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.G50R
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TYRP1

NM_000550.3:p.G50R

Associated Papers

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

Identification of genetic variants in five chinese families with keratoconus: Pathogenicity analysis and characteristics of parental corneal topography.

Cheng WY et al.

Frontiers in Genetics, 2022

The Effect of Mutations in the TPR and Ankyrin Families of Alpha Solenoid Repeat Proteins.

Izert MA et al.

Frontiers in Bioinformatics, 2021

36303725 (PubMed )
Supplement: Table2.xlsx › SI_Table_Ank
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