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.D41G

c.122A>G

Surrounding Variants

1 paper

NM_020320.5

p.S45F

c.134C>T

2 papers

NM_020320.5

p.E37Splc

c.111-2A>G

1 paper

NM_020320.5

p.N54delFs

c.160_161delTT

1 paper

NM_020320.5

p.R58G

c.172A>G

1 paper

NM_020320.5

p.D60N

c.178G>A

1 paper

NM_020320.5

p.Q62L

c.185A>T

2 papers

NM_020320.5

p.R67_E70del4

c.199_209del12

1 paper

NM_020320.5

p.L72L

c.214C>T

1 paper

NM_020320.5

p.E80E

c.240A>G

1 paper

NM_020320.5

p.S82N

c.245G>A

1 paper

NM_020320.5

p.T87_V88insFs

c.259_262dup4

1 paper

NM_020320.5

p.V88fs

c.262_263fs