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.S38delFs

c.112delT

Surrounding Variants

1 paper

NM_002887.4

p.G36A

c.107G>C

1 paper

NM_002887.4

p.P39T

c.115C>A

1 paper

NM_002887.4

p.L35*

c.104T>G

4 papers

NM_002887.4

p.C32fs

c.94_95fs

4 papers

NM_002887.4

p.C32_G33delFs

c.96_97delTG

1 paper

NM_002887.4

p.R28G

c.82C>G

1 paper

NM_002887.4

p.R28W

c.82C>T

3 papers

NM_002887.4

p.T23fs

c.67_68fs

3 papers

NM_002887.4

p.T23_A24delFs

c.67_70del4

3 papers

NM_002887.4

p.L58P

c.173T>C

1 paper

NM_002887.4

p.R59*

c.175C>T

1 paper

NM_002887.4

p.K60_S61Splc

c.180+11T>C