Varaico: Literature-Extracted Genetic Variants

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

13 papers

NM_024678.6

p.A244G

c.731C>G

Surrounding Variants

1 paper

NM_024678.6

p.R243*

c.727C>T

1 paper

NM_024678.6

p.R243G

c.727C>G

1 paper

NM_001243251.2

p.T14I

c.41C>T

1 paper

NM_024678.6

p.Q248R

c.743A>G

1 paper

NM_024678.6

p.G239V

c.716G>T

1 paper

NM_024678.6

p.R250W

c.748C>T

4 papers

NM_024678.6

p.R250Q

c.749G>A

10 papers

NM_024678.6

p.F236C

c.707T>G

3 papers

NM_024678.6

p.F236S

c.707T>C

1 paper

NM_024678.6

p.E255fs

c.763_764fs

1 paper

NM_024678.6

p.E255delFs

c.764_765delCT

2 papers

NM_024678.6

p.G230R

c.688G>C