Varaico: Literature-Extracted Genetic Variants

Gene:NARS2
Variant:p.Q386_H387insFs

NARS2

144 papers

RefSeq Summary

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. T...

Pfam Domains

tRNA-synt_2aa 1–236UCSCtRNA synthetases class II (D, K and N)
tRNA_anti-codonaa 44–118UCSCOB-fold nucleic acid binding domain

Gene Aliases

HGNC Name

asparaginyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

DFNB94

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024678.6
p.Q386_H387insFs
c.1158_1159ins16
Surrounding Variants
3 papers
NM_024678.6
p.T388M
c.1163C>T
11 papers
NM_024678.6
p.N381S
c.1142A>G
8 papers
NM_024678.6
p.N381D
c.1141A>G
1 paper
NM_024678.6
p.M378I
c.1134G>T
1 paper
NM_024678.6
p.M378I
c.1134G>C
1 paper
NM_024678.6
p.M378I
c.1134G>A
1 paper
NM_024678.6
p.M378L
c.1132A>T
1 paper
NM_024678.6
p.M378L
c.1132A>C
1 paper
NM_024678.6
p.N368ins2
c.1102_1103ins6
1 paper
NM_024678.6
p.E352K
c.1054G>A
1 paper
NM_024678.6
p.D346Y
c.1036G>T
1 paper
NM_024678.6
p.G344R
c.1030G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."