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.G677C

c.2029G>T

Surrounding Variants

1 paper

NM_152295.5

p.G677D

c.2030G>A

1 paper

NM_152295.5

p.G684D

c.2051G>A

1 paper

NM_152295.5

p.R689L

c.2066G>T

2 papers

NM_152295.5

p.I705M

c.2115C>G

1 paper

NM_152295.5

p.R663L

c.1988G>T

1 paper

NM_152295.5

p.R638*

c.1912C>T

1 paper

NM_152295.5

p.P618L

c.1853C>T

1 paper

NM_152295.5

p.P613L

c.1838C>T

1 paper

NM_152295.5

p.G595E

c.1784G>A

1 paper

NM_152295.5

p.G580D

c.1739G>A

2 papers

NM_152295.5

p.G580C

c.1738G>T

1 paper

NM_152295.5

p.I548M

c.1644T>G