Varaico: Literature-Extracted Genetic Variants

DARS2

247 papers

RefSeq Summary

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associ...

Pfam Domains

tRNA_anti-codonaa 66–149UCSCOB-fold nucleic acid binding domain

tRNA-synt_2aa 166–608UCSCtRNA synthetases class II (D, K and N)

GADaa 356–452UCSCGAD domain

Gene Aliases

HGNC Name

aspartyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbols

FLJ10514; mtAspRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018122.5

p.P132_K133Splc

c.397-6T>G

Surrounding Variants

3 papers

NM_018122.5

p.P132_K133Splc

c.397-2A>G

10 papers

NM_018122.5

p.T136S

c.406A>T

1 paper

NM_018122.5

p.T136K

c.407C>A

6 papers

NM_018122.5

p.I139T

c.416T>C

2 papers

NM_018122.5

p.E140K

c.418G>A

1 paper

NM_018122.5

p.T145P

c.433A>C

1 paper

NM_018122.5

p.L148I

c.442C>A

29 papers

NM_018122.5

p.C152F

c.455G>T

4 papers

NM_018122.5

p.L155R

c.464T>G

1 paper

NM_018122.5

p.F157I

c.469T>A

1 paper

NM_018122.5

p.E158*

c.472G>T

7 papers

NM_018122.5

p.E158V

c.473A>T