Varaico: Literature-Extracted Genetic Variants

Gene:MITF
Variant:p.R217G
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MITF

NM_001354604.2:p.R217G

Associated Papers

A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy.

Liu Z et al.

Cell Research, 2023

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.

Li C et al.

The Journal of Biological Chemistry, 2022

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Zardadi S et al.

Bmc Pediatrics, 2021

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Wang XP et al.

Journal of Human Genetics, 2018

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Grill C et al.

Human Molecular Genetics, 2013

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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."