Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.R781H
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ELAC2

NM_018127.7:p.R781H

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 basis of 3'-tRNA maturation by the human mitochondrial RNase Z complex.

Valentín Gesé G et al.

The Embo Journal, 2024

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

Xue C et al.

Nucleic Acids Research, 2024

Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?

Singh N et al.

Journal of Cardiovascular Development and Disease, 2023

37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M et al.

Human Mutation, 2019

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

Gandhi J et al.

Prostate Cancer and Prostatic Diseases, 2018

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM6_ESM.xlsx › clinsig4or5

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

Ma M et al.

Nucleic Acids Research, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

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

Prostate cancer susceptibility genes: lessons learned and challenges posed.

Simard J et al.

Endocrine-related Cancer, 2003

A candidate prostate cancer susceptibility gene encodes tRNA 3' processing endoribonuclease.

Takaku H et al.

Nucleic Acids Research, 2003

The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex.

Korver W et al.

International Journal of Cancer, 2003

Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer.

Camp NJ et al.

American Journal of Human Genetics, 2002

Perspective: prostate cancer susceptibility genes.

Simard J et al.

Endocrinology, 2002

Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series.

Fujiwara H et al.

Journal of Human Genetics, 2002

ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.

Rökman A et al.

Cancer Research, 2001

A candidate prostate cancer susceptibility gene at chromosome 17p.

Tavtigian SV et al.

Nature Genetics, 2001

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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."