Varaico: Literature-Extracted Genetic Variants

RARS2

229 papers

RefSeq Summary

This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded p...

Pfam Domains

tRNA-synt_1daa 1–274UCSCtRNA synthetases class I (R), catalytic domain

DALR_1aa 288–403UCSCDALR anticodon binding domain

Gene Aliases

HGNC Name

arginyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

RARSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020320.5

p.I168V

c.502A>G

Surrounding Variants

1 paper

NM_020320.5

p.I168T

c.503T>C

1 paper

NM_020320.5

p.R167K

c.500G>A

2 papers

NM_020320.5

p.G172S

c.514G>A

1 paper

NM_020320.5

p.Q164E

c.490C>G

1 paper

NM_020320.5

p.H163H

c.489T>C

2 papers

NM_020320.5

p.D173N

c.517G>A

1 paper

NM_020320.5

p.E159delFs

c.477delT

3 papers

NM_020320.5

p.K158_E159delFs

c.474_477del4

11 papers

NM_020320.5

p.K158del1

c.472_474delTTT

2 papers

NM_020320.5

p.E159fs

c.475_476fs

1 paper

NM_020320.5

p.L157_K158del1

c.471_473delTTG

1 paper

NM_020320.5

p.G179S

c.535G>A