ATP2B2 c.847G>A ;(p.G283S)

Variant ID: 3-10430021-C-T

NM_001001331.2(ATP2B2):c.847G>A;(p.G283S)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Structure, Function and Regulation of the Plasma Membrane Calcium Pump in Health and Disease.

International Journal Of Molecular Sciences
Krebs, Joachim J
Publication Date: 2022-01-18

Variant appearance in text: PMCA2: G283S
PubMed Link: 35162948
Variant Present in the following documents:
  • Main text
  • ijms-23-01027.pdf
View BVdb publication page



Structure, Function and Regulation of the Plasma Membrane Calcium Pump in Health and Disease.

International Journal Of Molecular Sciences
Krebs, Joachim J
Publication Date: 2022-01-18

Variant appearance in text: PMCA2: G283S
PubMed Link: 35162948
Variant Present in the following documents:
  • Main text
  • ijms-23-01027.pdf
View BVdb publication page



Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.

International Journal Of Molecular Sciences
Boczek, Tomasz T; Sobolczyk, Marta M; Mackiewicz, Joanna J; Lisek, Malwina M; Ferenc, Bozena B; Guo, Feng F; Zylinska, Ludmila L
Publication Date: 2021-03-10

Variant appearance in text: PMCA2: G283S
PubMed Link: 33801794
Variant Present in the following documents:
  • Main text
  • ijms-22-02785.pdf
View BVdb publication page



Computational Modeling of Genetic Contributions to Excitability and Neural Coding in Layer V Pyramidal Cells: Applications to Schizophrenia Pathology.

Frontiers In Computational Neuroscience
Mäki-Marttunen, Tuomo T; Devor, Anna A; Phillips, William A WA; Dale, Anders M AM; Andreassen, Ole A OA; Einevoll, Gaute T GT
Publication Date: 2019

Variant appearance in text: ATP2B2: G283S
PubMed Link: 31616272
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



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

Cerebral Cortex (New York, N.Y. : 1991)
Mäki-Marttunen, Tuomo T; Krull, Florian F; Bettella, Francesco F; Hagen, Espen E; Næss, Solveig S; Ness, Torbjørn V TV; Moberget, Torgeir T; Elvsåshagen, Torbjørn T; Metzner, Christoph C; Devor, Anna A; Edwards, Andrew G AG; Fyhn, Marianne M; Djurovic, Srdjan S; Dale, Anders M AM; Andreassen, Ole A OA; Einevoll, Gaute T GT
Publication Date: 2019-02-01

Variant appearance in text: ATP2B2: G283S
PubMed Link: 30475994
Variant Present in the following documents:
  • bhy291_supplementary.pdf
View BVdb publication page



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

Biological Psychiatry. Cognitive Neuroscience And Neuroimaging
Mäki-Marttunen, Tuomo T; Halnes, Geir G; Devor, Anna A; Witoelar, Aree A; Bettella, Francesco F; Djurovic, Srdjan S; Wang, Yunpeng Y; Einevoll, Gaute T GT; Andreassen, Ole A OA; Dale, Anders M AM
Publication Date: 2016-01-01

Variant appearance in text: ATP2B2: G283S
PubMed Link: 26949748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two ENU-induced alleles of Atp2b2 cause deafness in mice.

Plos One
Carpinelli, Marina R MR; Manning, Michael G MG; Kile, Benjamin T BT; Burt, Rachel A RA; Rachel, A Burt AB
Publication Date: 2013

Variant appearance in text: PMCA2: G283S
PubMed Link: 23826306
Variant Present in the following documents:
  • Main text
  • pone.0067479.pdf
View BVdb publication page



Life and death of sensory hair cells expressing constitutively active TRPML3.

The Journal Of Biological Chemistry
Grimm, Christian C; Jörs, Simone S; Heller, Stefan S
Publication Date: 2009-05-15

Variant appearance in text: PMCA2: G283S
PubMed Link: 19299509
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ficarella, R R; Di Leva, F F; Bortolozzi, M M; Ortolano, S S; Donaudy, F F; Petrillo, M M; Melchionda, S S; Lelli, A A; Domi, T T; Fedrizzi, L L; Lim, D D; Shull, G E GE; Gasparini, P P; Brini, M M; Mammano, F F; Carafoli, E E
Publication Date: 2007-01-30

Variant appearance in text: PMCA2: G283S
PubMed Link: 17234811
Variant Present in the following documents:
  • Main text
View BVdb publication page