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.S264C

c.791C>G

Surrounding Variants

1 paper

NM_024678.6

p.I263T

c.788T>C

1 paper

NM_024678.6

p.E260A

c.779A>C

1 paper

NM_024678.6

p.Q270ins2

c.809_810ins6

1 paper

NM_024678.6

p.L272V

c.814C>G

1 paper

NM_024678.6

p.E255delFs

c.764_765delCT

1 paper

NM_024678.6

p.E255fs

c.763_764fs

1 paper

NM_024678.6

p.Q274R

c.821A>G

12 papers

NM_024678.6

p.Q274H

c.822G>T

14 papers

NM_024678.6

p.Q274H

c.822G>C

1 paper

NM_024678.6

p.Q274_V275Splc

c.822+2T>G

4 papers

NM_024678.6

p.R250Q

c.749G>A

1 paper

NM_024678.6

p.R250W

c.748C>T