Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.C670delFs

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
8 papers
NM_018127.7
p.C670delFs
c.2009delC
Surrounding Variants
3 papers
NM_018127.7
p.C670fs
c.2008_2009fs
1 paper
NM_018127.7
p.E671Q
c.2011G>C
1 paper
NM_018127.7
p.C670S
c.2009G>C
1 paper
NM_018127.7
p.C670S
c.2008T>A
3 papers
NM_018127.7
p.C670fs
c.2008_2009fs
1 paper
NM_018127.7
p.R675ins2
c.2023_2024ins6
1 paper
NM_018127.7
p.Y663C
c.1988A>G
1 paper
NM_018127.7
p.K660I
c.1979A>T
2 papers
NM_018127.7
p.A648V
c.1943C>T
3 papers
NM_018127.7
p.R643Q
c.1928G>A
2 papers
NM_018127.7
p.V642M
c.1924G>A
1 paper
NM_018127.7
p.L641L
c.1921C>T
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