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

1 paper

NM_020320.5

p.L72L

c.214C>T

Surrounding Variants

1 paper

NM_020320.5

p.E80E

c.240A>G

1 paper

NM_020320.5

p.S82N

c.245G>A

1 paper

NM_020320.5

p.T87_V88insFs

c.259_262dup4

1 paper

NM_020320.5

p.V88fs

c.262_263fs

1 paper

NM_020320.5

p.N93fs

c.277_278fs

1 paper

NM_020320.5

p.R94G

c.280A>G

1 paper

NM_020320.5

p.R94fs

c.280_281fs

1 paper

NM_020320.5

p.N93_R94delFs

c.277_280del4

1 paper

NM_020320.5

p.E95K

c.283G>A

3 papers

NM_020320.5

p.R94_E95delFs

c.282_285del4

2 papers

NM_020320.5

p.L96_L97del2

c.286_290del6

1 paper

NM_020320.5

p.T98K

c.293C>A