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.T425S

c.1273A>T

Surrounding Variants

1 paper

NM_024678.6

p.R421Splc

c.1263-8T>G

2 papers

NM_024678.6

p.W430Splc

c.1289+7A>G

12 papers

NM_024678.6

p.R418H

c.1253G>A

1 paper

NM_024678.6

p.Y412*

c.1236C>G

1 paper

NM_024678.6

p.Y412*

c.1236C>A

1 paper

NM_024678.6

p.R411*

c.1231C>T

1 paper

NM_024678.6

p.R408R

c.1222A>C

9 papers

NM_024678.6

p.L395R

c.1184T>G

1 paper

NM_024678.6

p.L395P

c.1184T>C

5 papers

NM_024678.6

p.W430C

c.1290G>T

7 papers

NM_024678.6

p.W430C

c.1290G>C

3 papers

NM_024678.6

p.Y431H

c.1291T>C