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.N412Y

c.1234A>T

Surrounding Variants

1 paper

NM_152295.5

p.C413S

c.1237T>A

1 paper

NM_152295.5

p.C413S

c.1238G>C

1 paper

NM_152295.5

p.E429D

c.1287A>C

1 paper

NM_152295.5

p.L449P

c.1346T>C

1 paper

NM_152295.5

p.G451E

c.1352G>A

1 paper

NM_152295.5

p.T453I

c.1358C>T

1 paper

NM_152295.5

p.V455A

c.1364T>C

1 paper

NM_152295.5

p.N354T

c.1061A>C

2 papers

NM_152295.5

p.L346L

c.1036C>T

1 paper

NM_152295.5

p.G341A

c.1022G>C

1 paper

NM_152295.5

p.D329_Q330insFs

c.987_988insA

1 paper

NM_152295.5

p.F482S

c.1445T>C