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

1–12 of 241 variants

18 papers

NM_020320.5

p.E37Splc

c.110+5A>G

16 papers

NM_020320.5

p.M1V

c.1A>G

16 papers

NM_020320.5

p.Q12R

c.35A>G

11 papers

NM_020320.5

p.K158del1

c.472_474delTTT

9 papers

NM_020320.5

p.R6C

c.16C>T

9 papers

NM_020320.5

p.I9V

c.25A>G

9 papers

NM_020320.5

p.R245Q

c.734G>A

9 papers

NM_020320.5

p.R258H

c.773G>A

9 papers

NM_020320.5

p.M342V

c.1024A>G

9 papers

NM_020320.5

p.R469H

c.1406G>A

8 papers

NM_020320.5

p.M342I

c.1026G>T

8 papers

NM_020320.5

p.M342I

c.1026G>C