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.I331V

c.991A>G

Surrounding Variants

1 paper

NM_002887.4

p.V328I

c.982G>A

1 paper

NM_002887.4

p.A307S

c.919G>T

1 paper

NM_002887.4

p.C293F

c.878G>T

1 paper

NM_002887.4

p.E283V

c.848A>T

1 paper

NM_002887.4

p.S276fs

c.826_827fs

1 paper

NM_002887.4

p.E275insFs

c.825dupA

1 paper

NM_002887.4

p.T383A

c.1147A>G

1 paper

NM_002887.4

p.L396R

c.1187T>G

1 paper

NM_002887.4

p.L396_F397delins

c.1188_1190delinsGTA

2 papers

NM_002887.4

p.F397Y

c.1190T>A

1 paper

NM_002887.4

p.I404N

c.1211T>A

1 paper

NM_002887.4

p.H415Y

c.1243C>T