Varaico: Literature-Extracted Genetic Variants

Gene:PTAFR
Variant:p.A230E
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PTAFR

NM_000952.5:p.A230E

Associated Papers

Mutation of a putative amphipathic alpha-helix in the third intracellular domain of the platelet-activating factor receptor disrupts receptor/G protein coupling and signaling.

Carlson SA et al.

Molecular Pharmacology, 1998

Structural and functional requirements for agonist-induced internalization of the human platelet-activating factor receptor.

Le Gouill C et al.

The Journal of Biological Chemistry, 1997

Mutations of two adjacent amino acids generate inactive and constitutively active forms of the human platelet-activating factor receptor.

Parent JL et al.

The Journal of Biological Chemistry, 1996

Lack of constitutive activation or inactivation of the platelet-activating factor receptor by glutamate substitution of alanine 230.

Carlson SA et al.

Receptors & Signal Transduction, 1996

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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."