Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.G167C
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GPR50

NM_004224.3:p.G167C

Associated Papers

Frequent loss-of-function mutations in the AMPK-α2 catalytic subunit suggest a tumour suppressor role in human skin cancers.

Ross FA et al.

The Biochemical Journal, 2023

A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy.

Lin RJ et al.

American Journal of Ophthalmology, 2006

Sorsby's fundus dystrophy tissue inhibitor of metalloproteinases-3 (TIMP-3) mutants have unimpaired matrix metalloproteinase inhibitory activities, but affect cell adhesion to the extracellular matrix.

Yeow KM et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2002

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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."