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.G460V

c.1379G>T

Surrounding Variants

1 paper

NM_020320.5

p.G457R

c.1369G>C

1 paper

NM_020320.5

p.G457R

c.1369G>A

2 papers

NM_020320.5

p.S448_R456del9

c.1342_1367del27

1 paper

NM_020320.5

p.R456R

c.1368C>A

1 paper

NM_020320.5

p.R456P

c.1367G>C

1 paper

NM_020320.5

p.R456C

c.1366C>T

1 paper

NM_020320.5

p.T466I

c.1397C>T

1 paper

NM_020320.5

p.F453_Q454insC

c.1357_1361ins3

9 papers

NM_020320.5

p.R469H

c.1406G>A

1 paper

NM_020320.5

p.D450A

c.1349A>C

1 paper

NM_020320.5

p.W449*

c.1346G>A

5 papers

NM_020320.5

p.S443P

c.1327T>C