Varaico: Literature-Extracted Genetic Variants

IARS1

514 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

tRNA-synt_1aa 17–639UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 693–852UCSCAnticodon-binding domain of tRNA ligase

DUF5915aa 867–1071UCSCDomain of unknown function (DUF5915)

Ubiquitin_IARS1aa 1077–1162UCSCIsoleucine--tRNA ligase, cytoplasmic, ubiquitin-like

Ubiquitin_IARS1aa 1168–1259UCSCIsoleucine--tRNA ligase, cytoplasmic, ubiquitin-like

Gene Aliases

HGNC Name

isoleucyl-tRNA synthetase 1

HGNC Alias Symbol

ILRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002161.6

p.T63A

c.187A>G

Surrounding Variants

1 paper

NM_002161.6

p.A61E

c.182C>A

1 paper

NM_002161.6

p.K65R

c.194A>G

1 paper

NM_002161.6

p.D66H

c.196G>C

1 paper

NM_002161.6

p.G57E

c.170G>A

8 papers

NM_002161.6

p.T69I

c.206C>T

1 paper

NM_002161.6

p.T69K

c.206C>A

1 paper

NM_002161.6

p.T69T

c.207A>C

2 papers

NM_002161.6

p.A72T

c.214G>A

2 papers

NM_002161.6

p.A72V

c.215C>T

1 paper

NM_002161.6

p.G52A

c.155G>C

1 paper

NM_002161.6

p.Q74*

c.220C>T

1 paper

NM_002161.6

p.S75N

c.224G>A