Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.Q227L
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MFAP1

NM_005926.3:p.Q227L

Associated Papers

A molecular and structural mechanism for G protein-mediated microtubule destabilization.

Davé RH et al.

The Journal of Biological Chemistry, 2011

Caenorhabditis elegans glutamate transporter deletion induces AMPA-receptor/adenylyl cyclase 9-dependent excitotoxicity.

Mano I et al.

Journal of Neurochemistry, 2009

Contrasting effects of activating mutations of GalphaS and the thyrotropin receptor on proliferation and differentiation of thyroid follicular cells.

Ludgate M et al.

Oncogene, 1999

Mutation analysis of gonadotropin receptor and G protein genes in various types of human ovarian tumors.

Ichikawa Y et al.

Japanese Journal of Clinical Oncology, 1996

Activating mutations in the NH2- and COOH-terminal moieties of the Gs alpha subunit have dominant phenotypes and distinguishable kinetics of adenylyl cyclase stimulation.

Gupta SK et al.

Journal of Cellular Biochemistry, 1991

Mutations in Gs alpha that alter the kinetics of guanine nucleotide binding and hydrolysis.

Freissmuth M

Biochemical Society Transactions, 1991

Increased mitogenic responsiveness of Swiss 3T3 cells expressing constitutively active Gs alpha.

Zachary I et al.

Biochemical and Biophysical Research Communications, 1990

GTPase-inhibiting mutations activate the alpha-chain of Gs in human tumours.

Vallar L

Biochemical Society Symposium, 1990

Mutations of GS alpha designed to alter the reactivity of the protein with bacterial toxins. Substitutions at ARG187 result in loss of GTPase activity.

Freissmuth M et al.

The Journal of Biological Chemistry, 1989

GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.

Landis CA et al.

Nature, 1989

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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."