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.G541R

c.1621G>C

Surrounding Variants

1 paper

NM_152295.5

p.I548M

c.1644T>G

2 papers

NM_152295.5

p.G580C

c.1738G>T

1 paper

NM_152295.5

p.G580D

c.1739G>A

1 paper

NM_152295.5

p.G595E

c.1784G>A

1 paper

NM_152295.5

p.D513Y

c.1537G>T

1 paper

NM_152295.5

p.F482S

c.1445T>C

1 paper

NM_152295.5

p.V455A

c.1364T>C

1 paper

NM_152295.5

p.T453I

c.1358C>T

1 paper

NM_152295.5

p.G451E

c.1352G>A

1 paper

NM_152295.5

p.L449P

c.1346T>C

1 paper

NM_152295.5

p.E429D

c.1287A>C

1 paper

NM_152295.5

p.C413S

c.1238G>C