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.F5S

c.14T>C

Surrounding Variants

9 papers

NM_020320.5

p.R6C

c.16C>T

1 paper

NM_020320.5

p.R6S

c.16C>A

2 papers

NM_020320.5

p.R6H

c.17G>A

1 paper

NM_020320.5

p.R7fs

c.19_20fs

2 papers

NM_020320.5

p.C3Y

c.8G>A

1 paper

NM_020320.5

p.R7delFs

c.19delG

1 paper

NM_020320.5

p.A2V

c.5C>T

1 paper

NM_020320.5

p.A8G

c.23C>G

2 papers

NM_020320.5

p.M1I

c.3G>T

1 paper

NM_020320.5

p.M1I

c.3G>C

9 papers

NM_020320.5

p.I9V

c.25A>G

1 paper

NM_020320.5

p.M1R

c.2T>G