Varaico: Literature-Extracted Genetic Variants

Gene:AIMP2
Variant:p.L63*

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
2 papers
NM_006303.4
p.L63*
c.188T>A
Surrounding Variants
1 paper
NM_006303.4
p.K64delFs
c.191_192delAA
2 papers
NM_006303.4
p.R65S
c.193C>A
1 paper
NM_006303.4
p.R65C
c.193C>T
1 paper
NM_006303.4
p.L66L
c.196C>T
9 papers
NM_006303.4
p.D60E
c.180T>A
1 paper
NM_006303.4
p.D60N
c.178G>A
1 paper
NM_006303.4
p.D60Y
c.178G>T
1 paper
NM_006303.4
p.Y67_K70del4
c.199_209del12
1 paper
NM_006303.4
p.Y67N
c.199T>A
1 paper
NM_006303.4
p.Q59L
c.176A>T
1 paper
NM_006303.4
p.E68K
c.202G>A
2 papers
NM_006303.4
p.R58P
c.173G>C
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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."