Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.G12R
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GPR50

NM_004224.3:p.G12R

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

Enhanced interpretation of 935 hotspot and non-hotspot RAS variants using evidence-based structural bioinformatics.

Tripathi S et al.

Computational and Structural Biotechnology Journal, 2022

34976316 (PubMed )
Supplement: mmc1.docx

A functional mutation associated with piglet diarrhea partially by regulating the transcription of porcine STAT3.

Chen Z et al.

Frontiers in Veterinary Science, 2022

RAC2 and primary human immune deficiencies.

Lougaris V et al.

Journal of Leukocyte Biology, 2020

Mutagenesis Scanning Uncovers Evolutionary Constraints on Tobacco Etch Potyvirus Membrane-Associated 6K2 Protein.

González R et al.

Genome Biology and Evolution, 2019

The syndromic deafness mutation G12R impairs fast and slow gating in Cx26 hemichannels.

García IE et al.

The Journal of General Physiology, 2018

Mutational and kinetic analyses of the GTPase-activating protein (GAP)-p21 interaction: the C-terminal domain of GAP is not sufficient for full activity.

Gideon P et al.

Molecular and Cellular Biology, 1992

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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."