Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.I153fs

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.I153fs
c.457_458fs
Surrounding Variants
1 paper
NM_018127.7
p.I153delFs
c.457delT
20 papers
NM_018127.7
p.F154L
c.460T>C
19 papers
NM_018127.7
p.F154L
c.462T>G
19 papers
NM_018127.7
p.F154L
c.462T>A
1 paper
NM_018127.7
p.I151F
c.451A>T
1 paper
NM_018127.7
p.P157P
c.471A>T
1 paper
NM_018127.7
p.K146I
c.437A>T
1 paper
NM_018127.7
p.A164Splc
c.490+113C>T
1 paper
NM_018127.7
p.A164Splc
c.490+130T>C
1 paper
NM_018127.7
p.A164Splc
c.491-14T>C
1 paper
NM_018127.7
p.P171fs
c.511_512fs
1 paper
NM_018127.7
p.P171delFs
c.512delG
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