Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.E622V

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
13 papers
NM_018127.7
p.E622V
c.1865A>T
Surrounding Variants
1 paper
NM_018127.7
p.L624L
c.1872G>A
5 papers
NM_018127.7
p.S627L
c.1880C>T
1 paper
NM_018127.7
p.L629L
c.1887G>A
1 paper
NM_018127.7
p.R630*
c.1888C>T
1 paper
NM_018127.7
p.R630delFs
c.1889delC
2 papers
NM_018127.7
p.T631T
c.1893A>G
1 paper
NM_018127.7
p.Q611*
c.1831C>T
1 paper
NM_018127.7
p.C609C
c.1827C>T
1 paper
NM_018127.7
p.M604I
c.1812G>T
1 paper
NM_018127.7
p.M604I
c.1812G>C
1 paper
NM_018127.7
p.M604I
c.1812G>A
1 paper
NM_018127.7
p.L641L
c.1921C>T
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