Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.K406_K407Splc

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.K406_K407Splc
c.1218+3A>C
Surrounding Variants
1 paper
NM_018127.7
p.K406_K407Splc
c.1218+16G>A
1 paper
NM_018127.7
p.I396I
c.1188C>A
1 paper
NM_018127.7
p.Q388R
c.1163A>G
1 paper
NM_018127.7
p.Q388*
c.1162C>T
1 paper
NM_001165962.2
p.R341C
c.1021C>T
1 paper
NM_018127.7
p.R381_S382insATC
c.1141_1145ins9
1 paper
NM_018127.7
p.T411S
c.1231A>T
1 paper
NM_018127.7
p.T411I
c.1232C>T
1 paper
NM_018127.7
p.T411S
c.1232C>G
1 paper
NM_018127.7
p.S376insFs
c.1126_1127dupTC
1 paper
NM_018127.7
p.A375T
c.1123G>A
1 paper
NM_018127.7
p.P415P
c.1245C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."