Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2

ELAC2

251 papers

RefSeq Summary

The protein encoded by this gene has a C-terminal domain with tRNA 3' processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interac...

Pfam Domains

Lactamase_B_4aa 61–120UCSCtRNase Z endonuclease
Anti-Pycsar_Apyc1aa 481–734UCSCAnti-Pycsar protein Apyc1

Gene Aliases

HGNC Name

elaC ribonuclease Z 2

HGNC Alias Symbols

FLJ10530; HPC2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
72 papers
NM_018127.7
p.S217L
c.650C>T
66 papers
NM_018127.7
p.A541T
c.1621G>A
20 papers
NM_018127.7
p.F154L
c.460T>C
20 papers
NM_018127.7
p.R781H
c.2342G>A
19 papers
NM_018127.7
p.F154L
c.462T>G
19 papers
NM_018127.7
p.F154L
c.462T>A
16 papers
NM_018127.7
p.T520I
c.1559C>T
14 papers
NM_018127.7
p.L547_H548insFs
c.1641_1642insG
13 papers
NM_018127.7
p.E622V
c.1865A>T
12 papers
NM_018127.7
p.L423F
c.1267C>T
10 papers
NM_018127.7
p.R211*
c.631C>T
8 papers
NM_018127.7
p.C670delFs
c.2009delC
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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."