Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.N142K
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TYRP1

NM_000550.3:p.N142K

Associated Papers

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Xiao D et al.

Frontiers in Genetics, 2024

39076170 (PubMed )
Supplement: Table1.DOCX

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

Systematic mutagenesis of the leucine-rich repeat (LRR) domain of CCR4 reveals specific sites for binding to CAF1 and a separate critical role for the LRR in CCR4 deadenylase activity.

Clark LB et al.

The Journal of Biological Chemistry, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."