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.E199insFs

c.596_597insC

Surrounding Variants

1 paper

NM_018122.5

p.E199insFs

c.596_597insT

1 paper

NM_018122.5

p.R198_E199insT

c.592_596ins3

1 paper

NM_018122.5

p.R198W

c.592C>T

1 paper

NM_018122.5

p.L201I

c.601C>A

1 paper

NM_018122.5

p.L201V

c.601C>G

1 paper

NM_018122.5

p.K196R

c.587A>G

1 paper

NM_018122.5

p.N203S

c.608A>G

1 paper

NM_018122.5

p.V194I

c.580G>A

2 papers

NM_018122.5

p.H205N

c.613C>A

2 papers

NM_018122.5

p.G206E

c.617G>A

1 paper

NM_018122.5

p.S191Y

c.572C>A

2 papers

NM_018122.5

p.S191F

c.572C>T