Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.V711L

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.V711L
c.2131G>T
Surrounding Variants
1 paper
NM_018127.7
p.V711L
c.2131G>C
1 paper
NM_018127.7
p.V711M
c.2131G>A
1 paper
NM_018127.7
p.R728delFs
c.2184delG
3 papers
NM_018127.7
p.Y729C
c.2186A>G
1 paper
NM_018127.7
p.P733S
c.2197C>T
1 paper
NM_018127.7
p.F735I
c.2203T>A
4 papers
NM_018127.7
p.H749Y
c.2245C>T
3 papers
NM_018127.7
p.M750T
c.2249T>C
1 paper
NM_018127.7
p.E690K
c.2068G>A
1 paper
NM_018127.7
p.A680V
c.2039C>T
1 paper
NM_018127.7
p.M760L
c.2278A>T
1 paper
NM_018127.7
p.M760L
c.2278A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."