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

19 papers

NM_018122.5

p.R263Q

c.788G>A

Surrounding Variants

8 papers

NM_018122.5

p.R263*

c.787C>T

3 papers

NM_018122.5

p.A262V

c.785C>T

2 papers

NM_018122.5

p.R266*

c.796C>T

1 paper

NM_018122.5

p.E268*

c.802G>T

1 paper

NM_018122.5

p.G269S

c.805G>A

1 paper

NM_018122.5

p.R271T

c.812G>C

3 papers

NM_018122.5

p.R274_Q275delFs

c.822_825del4

1 paper

NM_018122.5

p.D273Y

c.817G>T

1 paper

NM_018122.5

p.R274fs

c.820_821fs

4 papers

NM_018122.5

p.E277K

c.829G>A

1 paper

NM_018122.5

p.F278F

c.834T>C

1 paper

NM_018122.5

p.T279I

c.836C>T