Varaico: Literature-Extracted Genetic Variants

TARS1

61 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

TGSaa 83–143UCSCTGS domain

tRNA_SADaa 249–298UCSCThreonyl and Alanyl tRNA synthetase second additional domain

tRNA-synt_2baa 397–608UCSCtRNA synthetase class II core domain (G, H, P, S and T)

HGTP_anticodonaa 620–711UCSCAnticodon binding domain

Gene Aliases

HGNC Name

threonyl-tRNA synthetase 1

HGNC Previous Name

threonyl-tRNA synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_152295.5

p.K276E

c.826A>G

Surrounding Variants

1 paper

NM_152295.5

p.L260P

c.779T>C

1 paper

NM_152295.5

p.M229V

c.685A>G

2 papers

NM_152295.5

p.L227P

c.680T>C

1 paper

NM_152295.5

p.E220*

c.658G>T

1 paper

NM_152295.5

p.S201F

c.602C>T

1 paper

NM_152295.5

p.N197S

c.590A>G

1 paper

NM_152295.5

p.S282F

c.845C>T

1 paper

NM_152295.5

p.D290N

c.868G>A

1 paper

NM_152295.5

p.E310A

c.929A>C

1 paper

NM_152295.5

p.E191A

c.572A>C

1 paper

NM_152295.5

p.G327D

c.980G>A

1 paper

NM_152295.5

p.S157T

c.470G>C