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.S83del1

c.247_248delACT

Surrounding Variants

5 papers

NM_024678.6

p.R84Splc

c.251+2T>G

1 paper

NM_024678.6

p.S83_R84delFs

c.248_251del4

1 paper

NM_024678.6

p.V75_R84delFs

c.223_251del29

1 paper

NM_024678.6

p.V76_A77delFs

c.227_230del4

1 paper

NM_024678.6

p.A77V

c.230C>T

1 paper

NM_024678.6

p.V76D

c.227T>A

1 paper

NM_024678.6

p.E71G

c.212A>G

2 papers

NM_024678.6

p.S69C

c.206C>G

1 paper

NM_024678.6

p.H63Y

c.187C>T

6 papers

NM_024678.6

p.L62P

c.185T>C

1 paper

NM_024678.6

p.K57E

c.169A>G

11 papers

NM_024678.6

p.Q56R

c.167A>G