Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.E622V
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ELAC2

NM_018127.7:p.E622V

Associated Papers

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

Xue C et al.

Nucleic Acids Research, 2024

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

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

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

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

[Hereditary prostate cancer].

Heise M et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2014

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

[Molecular basis of hereditary hemochromatosis].

Romanowski T et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2006

Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.

Rennert H et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

HPC2/ELAC2 gene variants associated with incident prostate cancer.

Adler D et al.

Journal of Human Genetics, 2003

HPC2/ELAC2 polymorphisms and prostate cancer risk: analysis by age of onset of disease.

Meitz JC et al.

British Journal of Cancer, 2002

Perspective: prostate cancer susceptibility genes.

Simard J et al.

Endocrinology, 2002

ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.

Rökman A et al.

Cancer Research, 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."