Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.R211Q
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ELAC2

NM_018127.7:p.R211Q

Associated Papers

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

Xue C et al.

Nucleic Acids Research, 2024

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_MOESM8_ESM.xlsx › S6B

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

Perspective: prostate cancer susceptibility genes.

Simard J et al.

Endocrinology, 2002

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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."