Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.V60L
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GAPDH

NM_002046.7:p.V60L

Associated Papers

Detrimental effects of melanocortin-1 receptor (MC1R) variants on the clinical outcomes of BRAF V600 metastatic melanoma patients treated with BRAF inhibitors.

Guida M et al.

Pigment Cell & Melanoma Research, 2016

Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

Chen YS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Melanocortin MC₁ receptor in human genetics and model systems.

Beaumont KA et al.

European Journal of Pharmacology, 2011

A SNP in the HSP90AA1 gene 5' flanking region is associated with the adaptation to differential thermal conditions in the ovine species.

Marcos-Carcavilla A et al.

Cell Stress & Chaperones, 2010

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

Beaumont KA et al.

Human Molecular Genetics, 2007

Identification of a 428-kb homozygously deleted region disrupting the SEZ6L gene at 22q12.1 in a lung cancer cell line.

Nishioka M et al.

Oncogene, 2000

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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."