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

1 paper

NM_152295.5

p.E134A

c.401A>C

Surrounding Variants

1 paper

NM_152295.5

p.L129P

c.386T>C

1 paper

NM_152295.5

p.E140K

c.418G>A

1 paper

NM_152295.5

p.D146N

c.436G>A

1 paper

NM_152295.5

p.D146Y

c.436G>T

1 paper

NM_152295.5

p.A149D

c.446C>A

1 paper

NM_152295.5

p.A149A

c.447T>A

1 paper

NM_152295.5

p.S157T

c.470G>C

1 paper

NM_152295.5

p.E191A

c.572A>C

1 paper

NM_152295.5

p.N197S

c.590A>G

1 paper

NM_152295.5

p.S201F

c.602C>T

1 paper

NM_152295.5

p.E220*

c.658G>T

2 papers

NM_152295.5

p.L227P

c.680T>C