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.S219S

c.657T>A

Surrounding Variants

1 paper

NM_002161.6

p.A222T

c.664G>A

2 papers

NM_002161.6

p.A222V

c.665C>T

1 paper

NM_002161.6

p.E216K

c.646G>A

1 paper

NM_002161.6

p.T226I

c.677C>T

1 paper

NM_002161.6

p.T229A

c.685A>G

1 paper

NM_002161.6

p.L230_P231insFs

c.690_691insC

1 paper

NM_002161.6

p.V206G

c.617T>G

1 paper

NM_002161.6

p.L234F

c.700C>T

6 papers

NM_002161.6

p.L234P

c.701T>C

1 paper

NM_002161.6

p.D203H

c.607G>C

1 paper

NM_002161.6

p.V201I

c.601G>A

1 paper

NM_002161.6

p.D200N

c.598G>A