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

1–12 of 103 variants

11 papers

NM_002887.4

p.S456L

c.1367C>T

10 papers

NM_002887.4

p.D2G

c.5A>G

7 papers

NM_002887.4

p.M1T

c.2T>C

6 papers

NM_002887.4

p.R512Q

c.1535G>A

6 papers

NM_002887.4

p.Y616fs

c.1846_1847fs

5 papers

NM_002887.4

p.Y616delFs

c.1846_1847delTA

4 papers

NM_002887.4

p.M1V

c.1A>G

4 papers

NM_002887.4

p.M1K

c.2T>A

4 papers

NM_002887.4

p.C32_G33delFs

c.96_97delTG

4 papers

NM_002887.4

p.C32fs

c.94_95fs

4 papers

NM_002887.4

p.E96_N97del2

c.286_290del6

4 papers

NM_002887.4

p.P159S

c.475C>T