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.N1203N

c.3609T>C

Surrounding Variants

1 paper

NM_002161.6

p.N1203S

c.3608A>G

1 paper

NM_002161.6

p.T1206T

c.3618C>T

1 paper

NM_002161.6

p.P1199S

c.3595C>T

1 paper

NM_002161.6

p.L1211R

c.3632T>G

1 paper

NM_002161.6

p.V1191insFs

c.3571_3572insC

1 paper

NM_002161.6

p.E1185Splc

c.3554-2A>T

1 paper

NM_002161.6

p.T1234A

c.3700A>G

1 paper

NM_002161.6

p.E1185Splc

c.3553+52G>A

3 papers

NM_002161.6

p.K1182E

c.3544A>G

1 paper

NM_002161.6

p.A1181P

c.3541G>C

10 papers

NM_002161.6

p.I1174N

c.3521T>A

1 paper

NM_002161.6

p.Q1172*

c.3514C>T