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.Q12_L13Splc

c.36+1G>T

Surrounding Variants

1 paper

NM_020320.5

p.Q12_L13Splc

c.36+1G>A

1 paper

NM_020320.5

p.Q12fs

c.34_35fs

1 paper

NM_020320.5

p.Q12Q

c.36G>A

16 papers

NM_020320.5

p.Q12R

c.35A>G

1 paper

NM_020320.5

p.Q12*

c.34C>T

1 paper

NM_020320.5

p.Q12_L13Splc

c.36+5G>A

1 paper

NM_020320.5

p.C11G

c.31T>G

2 papers

NM_020320.5

p.A10V

c.29C>T

1 paper

NM_020320.5

p.A10S

c.28G>T

1 paper

NM_020320.5

p.A10T

c.28G>A

9 papers

NM_020320.5

p.I9V

c.25A>G

1 paper

NM_020320.5

p.A8G

c.23C>G