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.N26T

c.77A>C

Surrounding Variants

1 paper

NM_002161.6

p.N26D

c.76A>G

1 paper

NM_002161.6

p.N26H

c.76A>C

1 paper

NM_002161.6

p.E24D

c.72A>T

1 paper

NM_002161.6

p.F28S

c.83T>C

1 paper

NM_002161.6

p.C31F

c.92G>T

1 paper

NM_002161.6

p.E20E

c.60G>A

1 paper

NM_002161.6

p.E20G

c.59A>G

1 paper

NM_002161.6

p.K17delFs

c.51delT

1 paper

NM_002161.6

p.K17R

c.50A>G

1 paper

NM_002161.6

p.K17E

c.49A>G

1 paper

NM_002161.6

p.H37Y

c.109C>T

1 paper

NM_002161.6

p.K38R

c.113A>G