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.R461G

c.1381A>G

Surrounding Variants

1 paper

NM_002161.6

p.W463L

c.1388G>T

1 paper

NM_002161.6

p.G464A

c.1391G>C

1 paper

NM_002161.6

p.I467T

c.1400T>C

1 paper

NM_002161.6

p.R453_D454insFs

c.1359_1360insA

1 paper

NM_002161.6

p.D474N

c.1420G>A

2 papers

NM_002161.6

p.R444*

c.1330C>T

12 papers

NM_002161.6

p.P437L

c.1310C>T

7 papers

NM_002161.6

p.W435C

c.1305G>T

7 papers

NM_002161.6

p.W435C

c.1305G>C

1 paper

NM_002161.6

p.N429T

c.1286A>C

1 paper

NM_002161.6

p.D424_L427del4

c.1270_1280del12

1 paper

NM_002161.6

p.E420A

c.1259A>C