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.R386Q

c.1157G>A

Surrounding Variants

1 paper

NM_020320.5

p.R386*

c.1156C>T

1 paper

NM_020320.5

p.V375M

c.1123G>A

1 paper

NM_020320.5

p.N398N

c.1194T>C

1 paper

NM_020320.5

p.R371Splc

c.1113-1G>A

2 papers

NM_020320.5

p.R403W

c.1207A>T

1 paper

NM_020320.5

p.R403K

c.1208G>A

6 papers

NM_020320.5

p.M404V

c.1210A>G

7 papers

NM_020320.5

p.M404K

c.1211T>A

1 paper

NM_020320.5

p.T413A

c.1237A>G

1 paper

NM_020320.5

p.A369fs

c.1105_1106fs

1 paper

NM_020320.5

p.A369fs

c.1105_1106fs

1 paper

NM_020320.5

p.D367D

c.1101C>T