Varaico: Literature-Extracted Genetic Variants

Gene:PLD2
Variant:p.T577I
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PLD2

NM_002663.5:p.T577I

Associated Papers

Aberrant One-Carbon Metabolism and Ancestral Genetics Underlie Edematous Severe Acute Malnutrition.

Hanchard N et al.

Research Square, 2025

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T1

Identification of a novel genetic locus underlying tremor and dystonia.

Monies D et al.

Human Genomics, 2017

29110692 (PubMed )
Supplement: 40246_2017_123_MOESM2_ESM.pdf

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf

Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.

Küry S et al.

Bmc Cancer, 2008

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

Yamada Y et al.

Archives of Medical Research, 2006

Association of a polymorphism of the phospholipase D2 gene with the prevalence of colorectal cancer.

Yamada Y et al.

Journal of Molecular Medicine (berlin, Germany), 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."