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

1–12 of 299 variants

20 papers

NM_002161.6

p.P12A

c.34C>G

17 papers

NM_002161.6

p.A1081A

c.3243A>G

12 papers

NM_002161.6

p.P437L

c.1310C>T

10 papers

NM_002161.6

p.R254*

c.760C>T

10 papers

NM_002161.6

p.I1174N

c.3521T>A

9 papers

NM_002161.6

p.V370G

c.1109T>G

9 papers

NM_002161.6

p.R418*

c.1252C>T

9 papers

NM_002161.6

p.N992D

c.2974A>G

8 papers

NM_002161.6

p.T69I

c.206C>T

8 papers

NM_002161.6

p.V79L

c.235G>C

8 papers

NM_002161.6

p.F556S

c.1667T>C

8 papers

NM_002161.6

p.R739C

c.2215C>T