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.S270ins2

c.809_810ins6

Surrounding Variants

1 paper

NM_020320.5

p.E265delFs

c.795delT

1 paper

NM_020320.5

p.E265fs

c.793_794fs

1 paper

NM_020320.5

p.Q277_L280del4

c.829_839del12

9 papers

NM_020320.5

p.R258H

c.773G>A

1 paper

NM_020320.5

p.R258C

c.772C>T

7 papers

NM_020320.5

p.L283Q

c.848T>A

1 paper

NM_020320.5

p.L282_S285del4

c.844_854del12

4 papers

NM_020320.5

p.K291R

c.872A>G

4 papers

NM_020320.5

p.I293Splc

c.878+5G>T

3 papers

NM_020320.5

p.R254W

c.760C>T

1 paper

NM_020320.5

p.E250K

c.748G>A

1 paper

NM_020320.5

p.L247L

c.741G>A