Varaico: Literature-Extracted Genetic Variants

Gene:OXER1
Variant:p.R151C
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OXER1

NM_148962.5:p.R151C

Associated Papers

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi.

Sánchez-Laorden BL et al.

Journal of Cellular Physiology, 2009

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.

Wahlestedt C et al.

Bmc Genomics, 2004

15579207 (PubMed )
Supplement: 1471-2164-5-91-S1.doc
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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."