Varaico: Literature-Extracted Genetic Variants

RARS1

82 papers

RefSeq Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-...

Pfam Domains

Arg_tRNA_synt_Naa 78–166UCSCArginyl tRNA synthetase N terminal domain

tRNA-synt_1daa 174–520UCSCtRNA synthetases class I (R), catalytic domain

DALR_1aa 534–660UCSCDALR anticodon binding domain

Gene Aliases

HGNC Name

arginyl-tRNA synthetase 1

HGNC Alias Symbol

DALRD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002887.4

p.L592insFs

c.1775dupT

Surrounding Variants

1 paper

NM_002887.4

p.L592fs

c.1774_1775fs

1 paper

NM_002887.4

p.L592F

c.1776A>C

1 paper

NM_002887.4

p.L592F

c.1776A>T

1 paper

NM_002887.4

p.H595H

c.1785C>T

3 papers

NM_002887.4

p.L597P

c.1790T>C

1 paper

NM_002887.4

p.L579*

c.1736T>G

2 papers

NM_002887.4

p.W572*

c.1716G>A

1 paper

NM_002887.4

p.W572*

c.1715G>A

5 papers

NM_002887.4

p.Y616delFs

c.1846_1847delTA

6 papers

NM_002887.4

p.Y616fs

c.1846_1847fs

1 paper

NM_002887.4

p.E619K

c.1855G>A

1 paper

NM_002887.4

p.N549S

c.1646A>G