Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.R435Splc

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
Selected Variant
1 paper
NM_018127.7
p.R435Splc
c.1304+17A>T
Surrounding Variants
1 paper
NM_018127.7
p.W433C
c.1299G>T
1 paper
NM_018127.7
p.R428H
c.1283G>A
1 paper
NM_018127.7
p.Y425*
c.1275C>G
1 paper
NM_018127.7
p.Y425*
c.1275C>A
12 papers
NM_018127.7
p.L423F
c.1267C>T
1 paper
NM_018127.7
p.L422V
c.1264C>G
1 paper
NM_018127.7
p.P415P
c.1245C>G
1 paper
NM_018127.7
p.T411I
c.1232C>T
1 paper
NM_018127.7
p.T411S
c.1232C>G
1 paper
NM_018127.7
p.T411S
c.1231A>T
1 paper
NM_018127.7
p.K406_K407Splc
c.1218+16G>A
1 paper
NM_018127.7
p.K406_K407Splc
c.1218+3A>C
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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."