Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.S217L
Back to variants list

ELAC2

NM_018127.7:p.S217L

Associated Papers

Ribonuclease RNase Z is an evolutionarily conserved deAMPylase.

Mukherjee M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Structural insights into human ELAC2 as a tRNA 3' processing enzyme.

Xue C et al.

Nucleic Acids Research, 2024

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.

Mokhosoev IM et al.

Cells, 2024

Evaluation of HNF1B, KLK3, ELAC2, TMPRSS2-ERG, and CTNNB1 polymorphisms associated with prostate cancer in samples of patients from HUPE-UERJ.

Menezes RDS et al.

The Prostate, 2024

Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer.

Stentenbach M et al.

Embo Molecular Medicine, 2023

A Case Study on PPM1D and 9 Other Shared Germline Alterations in a Family.

Biswas S et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2023

Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso.

Traoré ADD et al.

Prostate Cancer, 2022

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer.

Zahiri Z et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.

Crumbaker M et al.

Cancers, 2020

32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4

Comprehensive analysis of age-related somatic mutation profiles in Chinese young lung adenocarcinoma patients.

Yang B et al.

Cancer Medicine, 2019

Prevalence of the Ser217Leu Variant of the ELAC2 Gene and Its Association with Prostate Cancer in Population of the Littoral Region of Cameroon.

Djomkam ALZ et al.

Prostate Cancer, 2019

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

The molecular biology of prostate cancer: current understanding and clinical implications.

Gandhi J et al.

Prostate Cancer and Prostatic Diseases, 2018

The crystal structure of Trz1, the long form RNase Z from yeast.

Ma M et al.

Nucleic Acids Research, 2017

A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Melloni GEM et al.

Breast Cancer Research : Bcr, 2017

28569218 (PubMed )
Supplement: 13058_2017_854_MOESM2_ESM.xlsx › Table_S5

Prognostic role of genetic biomarkers in clinical progression of prostate cancer.

Alvarez-Cubero MJ et al.

Experimental & Molecular Medicine, 2015

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 genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf

Genetic analysis of the principal genes related to prostate cancer: a review.

Alvarez-Cubero MJ et al.

Urologic Oncology, 2013

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Haack TB et al.

American Journal of Human Genetics, 2013

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Haiman CA et al.

Plos Genetics, 2013

Sequencing and analysis of a South Asian-Indian personal genome.

Gupta R et al.

Bmc Genomics, 2012

Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.

Sobti RC et al.

Molecular Biology Reports, 2011

Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer.

Izmirli M et al.

Balkan Journal of Medical Genetics : Bjmg, 2011

Associations of polymorphisms in HPC2/ELAC2 and SRD5A2 genes with benign prostate hyperplasia in Turkish men.

Izmirli M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2011

ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.

Xu B et al.

Prostate Cancer and Prostatic Diseases, 2010

Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.

Beuten J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

Breyer JP et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009

Development of a fingerprinting panel using medically relevant polymorphisms.

Cross DS et al.

Bmc Medical Genomics, 2009

19379518 (PubMed )
Supplement: 1755-8794-2-17-S2.doc

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.

Robbins CM et al.

The Prostate, 2008

DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

Ley TJ et al.

Nature, 2008

18987736 (PubMed )
Supplement: NIHMS71093-supplement-7.xls › untitled1_4_

Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.

Chen YC et al.

Carcinogenesis, 2008

SNPs associated with prostate cancer risk and prognosis.

Naylor SL

Frontiers in Bioscience : a Journal and Virtual Library, 2007

Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway.

Lindström S et al.

The Prostate, 2006

Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.

Noonan-Wheeler FC et al.

The Prostate, 2006

The missense mutations in the candidate prostate cancer gene ELAC2 do not alter enzymatic properties of its product.

Minagawa A et al.

Cancer Letters, 2005

Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.

Chen Y et al.

Bmc Molecular Biology, 2005

Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer.

Camp NJ et al.

Genetic Epidemiology, 2005

1–50 of 76 papers
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."