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

3 papers

NM_020320.5

p.R254W

c.760C>T

Surrounding Variants

1 paper

NM_020320.5

p.E250K

c.748G>A

1 paper

NM_020320.5

p.L247L

c.741G>A

9 papers

NM_020320.5

p.R245Q

c.734G>A

2 papers

NM_020320.5

p.W241L

c.722G>T

5 papers

NM_020320.5

p.W241R

c.721T>C

6 papers

NM_020320.5

p.W241R

c.721T>A

1 paper

NM_020320.5

p.Q236R

c.707A>G

3 papers

NM_020320.5

p.V235M

c.703G>A

1 paper

NM_020320.5

p.R229L

c.686G>T

5 papers

NM_020320.5

p.R229*

c.685C>T

1 paper

NM_020320.5

p.A213E

c.638C>A

1 paper

NM_020320.5

p.K211_E212delFs

c.633_636del4