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.K352insFs

c.1055dupA

Surrounding Variants

2 papers

NM_020320.5

p.K352fs

c.1054_1055fs

1 paper

NM_020320.5

p.K352delFs

c.1055delT

1 paper

NM_020320.5

p.H353fs

c.1057_1058fs

1 paper

NM_020320.5

p.F354I

c.1060T>A

1 paper

NM_020320.5

p.Q356*

c.1066C>T

1 paper

NM_020320.5

p.F358F

c.1074C>T

3 papers

NM_020320.5

p.T346I

c.1037C>T

1 paper

NM_020320.5

p.M360I

c.1080G>A

1 paper

NM_020320.5

p.D367D

c.1101C>T

1 paper

NM_020320.5

p.A369fs

c.1105_1106fs

1 paper

NM_020320.5

p.A369fs

c.1105_1106fs

1 paper

NM_020320.5

p.R371Splc

c.1113-1G>A