Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.E776K

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.E776K
c.2326G>A
Surrounding Variants
1 paper
NM_018127.7
p.E780K
c.2338G>A
20 papers
NM_018127.7
p.R781H
c.2342G>A
1 paper
NM_018127.7
p.R791W
c.2371C>T
2 papers
NM_018127.7
p.R791Q
c.2372G>A
1 paper
NM_018127.7
p.M760L
c.2278A>T
1 paper
NM_018127.7
p.M760L
c.2278A>C
4 papers
NM_018127.7
p.G806R
c.2416G>C
4 papers
NM_018127.7
p.G806R
c.2416G>A
1 paper
NM_018127.7
p.H814N
c.2440C>A
1 paper
NM_018127.7
p.A820T
c.2458G>A
3 papers
NM_018127.7
p.M750T
c.2249T>C
4 papers
NM_018127.7
p.H749Y
c.2245C>T
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