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.T1036N

c.3107C>A

Surrounding Variants

1 paper

NM_002161.6

p.I1033fs

c.3097_3098fs

1 paper

NM_002161.6

p.I1033insFs

c.3097_3098ins4

1 paper

NM_002161.6

p.E1031E

c.3093G>A

1 paper

NM_002161.6

p.V1046I

c.3136G>A

1 paper

NM_002161.6

p.A1015V

c.3044C>T

1 paper

NM_002161.6

p.K1014N

c.3042A>T

2 papers

NM_002161.6

p.K1014R

c.3041A>G

1 paper

NM_002161.6

p.L997F

c.2989C>T

1 paper

NM_002161.6

p.I994M

c.2982A>G

1 paper

NM_002161.6

p.N992S

c.2975A>G

9 papers

NM_002161.6

p.N992D

c.2974A>G

3 papers

NM_002161.6

p.R988Q

c.2963G>A