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

2 papers

NM_002161.6

p.Y397_P398insFs

c.1191_1192insG

Surrounding Variants

1 paper

NM_002161.6

p.P398H

c.1193C>A

1 paper

NM_002161.6

p.P398insFs

c.1193dupC

1 paper

NM_002161.6

p.C400fs

c.1198_1199fs

1 paper

NM_002161.6

p.E383A

c.1148A>C

1 paper

NM_002161.6

p.T380A

c.1138A>G

1 paper

NM_002161.6

p.S376G

c.1126A>G

2 papers

NM_002161.6

p.D374Y

c.1120G>T

9 papers

NM_002161.6

p.V370G

c.1109T>G

1 paper

NM_002161.6

p.Q368insFs

c.1102_1103insC

3 papers

NM_002161.6

p.D364Y

c.1090G>T

1 paper

NM_002161.6

p.E361G

c.1082A>G

1 paper

NM_002161.6

p.G356S

c.1066G>A