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.L513F

c.1539G>C

Surrounding Variants

6 papers

NM_002887.4

p.R512Q

c.1535G>A

3 papers

NM_002887.4

p.R512W

c.1534C>T

3 papers

NM_002887.4

p.M523K

c.1568T>A

1 paper

NM_002887.4

p.A499A

c.1497G>A

3 papers

NM_002887.4

p.T530A

c.1588A>G

1 paper

NM_002887.4

p.T539I

c.1616C>T

4 papers

NM_002887.4

p.R542Splc

c.1625+2T>G

1 paper

NM_002887.4

p.R546H

c.1637G>A

1 paper

NM_002887.4

p.N549S

c.1646A>G

1 paper

NM_002887.4

p.W572*

c.1715G>A

2 papers

NM_002887.4

p.W572*

c.1716G>A

1 paper

NM_002887.4

p.L579*

c.1736T>G