Varaico: Literature-Extracted Genetic Variants

Gene:TYRP1
Variant:p.S305R
Back to variants list

TYRP1

NM_000550.3:p.S305R

Associated Papers

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Rayner JE et al.

Plos One, 2020

32966289 (PubMed )
Supplement: pone.0238529.s003.docx

Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma.

Nathan V et al.

Pigment Cell & Melanoma Research, 2019

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.

Baruffini E et al.

Mitochondrion, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."