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

1 paper

NM_024678.6

p.T149A

c.445A>G

Surrounding Variants

1 paper

NM_024678.6

p.G153S

c.457G>A

1 paper

NM_024678.6

p.L156M

c.466T>A

1 paper

NM_024678.6

p.L156S

c.467T>C

2 papers

NM_024678.6

p.R140*

c.418C>T

1 paper

NM_024678.6

p.I158T

c.473T>C

10 papers

NM_024678.6

p.R159C

c.475C>T

2 papers

NM_024678.6

p.Y138Y

c.414T>C

1 paper

NM_024678.6

p.E137Q

c.409G>C

1 paper

NM_024678.6

p.H134delFs

c.401delT

1 paper

NM_024678.6

p.A164V

c.491C>T

16 papers

NM_024678.6

p.H167R

c.500A>G

5 papers

NM_024678.6

p.F169Y

c.506T>A