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

4 papers

NM_002887.4

p.E96_N97del2

c.286_290del6

Surrounding Variants

1 paper

NM_002887.4

p.E96K

c.286G>A

1 paper

NM_002887.4

p.P98H

c.293C>A

1 paper

NM_002887.4

p.L100V

c.298C>G

1 paper

NM_002887.4

p.Q106H

c.318G>C

1 paper

NM_002887.4

p.Q106H

c.318G>T

1 paper

NM_002887.4

p.C115S

c.343T>A

1 paper

NM_002887.4

p.C115S

c.344G>C

1 paper

NM_002887.4

p.M73V

c.217A>G

1 paper

NM_002887.4

p.Q123Q

c.369G>A

3 papers

NM_002887.4

p.N67_T70del4

c.199_209del12

1 paper

NM_002887.4

p.K143insFs

c.427dupA

3 papers

NM_002887.4

p.C150_E152del0

c.448_456del9