Varaico: Literature-Extracted Genetic Variants

Gene:PIP4K2A
Variant:p.N251S
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PIP4K2A

NM_005028.5:p.N251S

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemia.

Zhang Y et al.

British Journal of Haematology, 2023

Distribution and localization of phosphatidylinositol 5-phosphate, 4-kinase alpha and beta in the brain.

Noch EK et al.

The Journal of Comparative Neurology, 2021

Kv7 Channels and Excitability Disorders.

Jones F et al.

Handbook of Experimental Pharmacology, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

Genetic polymorphisms of PIP5K2A and course of schizophrenia.

Poltavskaya EG et al.

Bmc Medical Genetics, 2020

Characterizing rare and low-frequency height-associated variants in the Japanese population.

Akiyama M et al.

Nature Communications, 2019

31562340 (PubMed )
Supplement: 41467_2019_12276_MOESM9_ESM.xlsx › Supplementary_Data_7

PIP4K2A as a negative regulator of PI3K in PTEN-deficient glioblastoma.

Shin YJ et al.

The Journal of Experimental Medicine, 2019

PIP4K2A regulates intracellular cholesterol transport through modulating PI(4,5)P2 homeostasis.

Hu A et al.

Journal of Lipid Research, 2018

Association study indicates a protective role of phosphatidylinositol-4-phosphate-5-kinase against tardive dyskinesia.

Fedorenko OY et al.

The International Journal of Neuropsychopharmacology, 2014

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0CT-01A.domain

Structural basis of PI(4,5)P2-dependent regulation of GluA1 by phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP5K2A).

Seebohm G et al.

Pflugers Archiv : European Journal of Physiology, 2014

Enzyme activity of the PIP4K2A gene product polymorphism that is implicated in schizophrenia.

Clarke JH et al.

Psychopharmacology, 2013

[Association of (N251S)-PIP5K2A with schizophrenic disorders: a study of the Russian population of Siberia].

Fedorenko OIu et al.

Zhurnal Nevrologii I Psikhiatrii Imeni S.s. Korsakova, 2013

PIP5K2A-dependent regulation of excitatory amino acid transporter EAAT3.

Fedorenko O et al.

Psychopharmacology, 2009

A schizophrenia-linked mutation in PIP5K2A fails to activate neuronal M channels.

Fedorenko O et al.

Psychopharmacology, 2008

Association study between genetic variants at the PIP5K2A gene locus and schizophrenia and bipolar affective disorder.

Jamra RA et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2006

Evidence for association of DNA sequence variants in the phosphatidylinositol-4-phosphate 5-kinase IIalpha gene (PIP5K2A) with schizophrenia.

Schwab SG et al.

Molecular Psychiatry, 2006

Polymorphism screening of PIP5K2A: a candidate gene for chromosome 10p-linked psychiatric disorders.

Stopkova P et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2003

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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."