Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B2
Variant:p.G293S
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ATP2B2

NM_001001331.4:p.G293S

Associated Papers

Alterations in Schizophrenia-Associated Genes Can Lead to Increased Power in Delta Oscillations.

Mäki-Marttunen T et al.

Cerebral Cortex (new York, N.y. : 1991), 2019

30475994 (PubMed )
Supplement: bhy291_supplementary.pdf

Highly similar genomic landscapes in monoclonal B-cell lymphocytosis and ultra-stable chronic lymphocytic leukemia with low frequency of driver mutations.

Agathangelidis A et al.

Haematologica, 2018

29449433 (PubMed )
Supplement: 2017.177212.AGATHANGELIDIS_SUPPL.pdf

Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.

Mäki-Marttunen T et al.

Biological Psychiatry. Cognitive Neuroscience and Neuroimaging, 2016

The plasma membrane calcium pump in health and disease.

Brini M et al.

The Febs Journal, 2013

Hair cells, plasma membrane Ca²⁺ ATPase and deafness.

Giacomello M et al.

The International Journal of Biochemistry & Cell Biology, 2012

The plasma membrane calcium pump in the hearing process: physiology and pathology.

Carafoli E

Science China. Life Sciences, 2011

The novel PMCA2 pump mutation Tommy impairs cytosolic calcium clearance in hair cells and links to deafness in mice.

Bortolozzi M et al.

The Journal of Biological Chemistry, 2010

The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.

Spiden SL et al.

Plos Genetics, 2008

A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.

Ficarella R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

Ca2+ homeostasis defects and hereditary hearing loss.

Mammano F

Biofactors (oxford, England), 0

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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."