Varaico: Literature-Extracted Genetic Variants

Gene:PLD2
Variant:p.R172C
Back to variants list

PLD2

NM_002663.5:p.R172C

Associated Papers

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Novel loss-of-function mutations in TNFAIP3 gene in patients with lupus nephritis.

Zhang C et al.

Clinical Kidney Journal, 2022

The molecular landscape of ETMR at diagnosis and relapse.

Lambo S et al.

Nature, 2019

31802000 (PubMed )
Supplement: NIHMS1541318-supplement-Supplementary_Table_5.xlsx › Somatic_SNVs_indels_primary

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Phospholipase D2 loss results in increased blood pressure via inhibition of the endothelial nitric oxide synthase pathway.

Nelson RK et al.

Scientific Reports, 2017

Recapitulation of Candidate Systemic Lupus Erythematosus-Associated Variants in Koreans.

Kwon KS et al.

Genomics & Informatics, 2016

PLD3 in Alzheimer's Disease: a Modest Effect as Revealed by Updated Association and Expression Analyses.

Zhang DF et al.

Molecular Neurobiology, 2016

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

Bentham J et al.

Nature Genetics, 2015

Identification of the catalytic site of phospholipase D2 (PLD2) newly described guanine nucleotide exchange factor activity.

Mahankali M et al.

The Journal of Biological Chemistry, 2012

A comprehensive catalogue of functional genetic variations in the EGFR pathway: protein-protein interaction analysis reveals novel genes and polymorphisms important for cancer research.

Savas S et al.

International Journal of Cancer, 2009

Catalytic inactivation of human phospholipase D2 by a naturally occurring Gly901Asp mutation.

Yamada Y et al.

Archives of Medical Research, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."