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.V440L

c.1318G>C

Surrounding Variants

1 paper

NM_024678.6

p.V440L

c.1318G>T

1 paper

NM_001243251.2

p.P214L

c.641C>T

1 paper

NM_024678.6

p.H442R

c.1325A>G

1 paper

NM_001243251.2

p.G216fs

c.646_647fs

1 paper

NM_024678.6

p.R436*

c.1306C>T

1 paper

NM_024678.6

p.R436G

c.1306C>G

10 papers

NM_024678.6

p.L434F

c.1300C>T

11 papers

NM_024678.6

p.M447V

c.1339A>G

NM_001243251.2

p.M220V

c.658A>G

1 paper

NM_024678.6

p.Y431C

c.1292A>G

3 papers

NM_024678.6

p.Y431H

c.1291T>C

5 papers

NM_024678.6

p.W430C

c.1290G>T

7 papers

NM_024678.6

p.W430C

c.1290G>C