Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.P171fs

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.P171fs
c.511_512fs
Surrounding Variants
1 paper
NM_018127.7
p.P171delFs
c.512delG
1 paper
NM_018127.7
p.E174K
c.520G>A
1 paper
NM_018127.7
p.D175Y
c.523G>T
1 paper
NM_018127.7
p.D175N
c.523G>A
4 papers
NM_018127.7
p.T179T
c.537A>T
1 paper
NM_018127.7
p.Y181S
c.542A>C
1 paper
NM_018127.7
p.A164Splc
c.491-14T>C
1 paper
NM_018127.7
p.H186D
c.556C>G
1 paper
NM_018127.7
p.S187Splc
c.559+267A>C
1 paper
NM_018127.7
p.A164Splc
c.490+130T>C
1 paper
NM_018127.7
p.A164Splc
c.490+113C>T
1 paper
NM_018127.7
p.P157P
c.471A>T
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."