Varaico: Literature-Extracted Genetic Variants

Gene:AIMP2
Variant:p.E46K

AIMP2

963 papers

RefSeq Summary

The protein encoded by this gene is part of the aminoacyl-tRNA synthetase complex, which contains nine different aminoacyl-tRNA synthetases and three non-enzymatic factors. The encoded protein is one ...

Pfam Domains

AIMP2_LysRS_bdaa 1–44UCSCAIMP2 lysyl-tRNA synthetase binding domain
Thioredoxin_16aa 39–130UCSCThioredoxin-like domain
GST_Caa 164–232UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

aminoacyl tRNA synthetase complex interacting multifunctional protein 2

HGNC Alias Symbols

p38; PRO0992; JTV-1; JTV1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006303.4
p.E46K
c.136G>A
Surrounding Variants
1 paper
NM_006303.4
p.E46A
c.137A>C
1 paper
NM_006303.4
p.E46E
c.138A>G
1 paper
NM_006303.4
p.E47*
c.139G>T
1 paper
NM_006303.4
p.S48T
c.142T>A
1 paper
NM_006303.4
p.N49I
c.146A>T
2 papers
NM_006303.4
p.S51A
c.151T>G
1 paper
NM_006303.4
p.S51S
c.153T>A
1 paper
NM_006303.4
p.A54T
c.160G>A
1 paper
NM_006303.4
p.A54P
c.160G>C
1 paper
NM_006303.4
p.A54G
c.161C>G
1 paper
NM_006303.4
p.L55I
c.163C>A
1 paper
NM_006303.4
p.L55H
c.164T>A
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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."