Varaico: Literature-Extracted Genetic Variants

Gene:AIMP2
Variant:p.L108M

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
1 paper
NM_006303.4
p.L108M
c.322T>A
Surrounding Variants
1 paper
NM_006303.4
p.D107V
c.320A>T
1 paper
NM_006303.4
p.L108L
c.324G>A
1 paper
NM_006303.4
p.L106P
c.317T>C
1 paper
NM_006303.4
p.S110A
c.328T>G
1 paper
NM_006303.4
p.N104S
c.311A>G
1 paper
NM_006303.4
p.L112F
c.334C>T
1 paper
NM_006303.4
p.T103A
c.307A>G
1 paper
NM_006303.4
p.K114_D115Splc
c.342+1G>A
1 paper
NM_006303.4
p.T100S
c.298A>T
2 papers
NM_006303.4
p.K114_D115Splc
c.342+4G>A
2 papers
NM_006303.4
p.T99S
c.295A>T
2 papers
NM_006303.4
p.P98L
c.293C>T
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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."