Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.S217L

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
72 papers
NM_018127.7
p.S217L
c.650C>T
Surrounding Variants
1 paper
NM_001165962.2
p.S187Splc
c.560-1021C>G
NM_018127.7
p.S217W
c.650C>G
1 paper
NM_018127.7
p.S217T
c.649T>A
6 papers
NM_018127.7
p.E216*
c.646G>T
4 papers
NM_018127.7
p.R211Q
c.632G>A
10 papers
NM_018127.7
p.R211*
c.631C>T
1 paper
NM_018127.7
p.L224P
c.671T>C
1 paper
NM_018127.7
p.H226R
c.677A>G
1 paper
NM_018127.7
p.S199N
c.596G>A
2 papers
NM_018127.7
p.W197*
c.591G>A
1 paper
NM_018127.7
p.W197*
c.590G>A
1 paper
NM_018127.7
p.Q189R
c.566A>G
2 papers
NM_018127.7
p.S187Splc
c.560-2A>G
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