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.P6P

c.18A>G

Surrounding Variants

1 paper

NM_002161.6

p.P6L

c.17C>T

1 paper

NM_002161.6

p.V5L

c.13G>C

1 paper

NM_002161.6

p.Q4H

c.12A>C

1 paper

NM_002161.6

p.Q3R

c.8A>G

1 paper

NM_002161.6

p.Q3*

c.7C>T

1 paper

NM_002161.6

p.M1T

c.2T>C

20 papers

NM_002161.6

p.P12A

c.34C>G

1 paper

NM_002161.6

p.A13T

c.37G>A

2 papers

NM_002161.6

p.A13V

c.38C>T

1 paper

NM_002161.6

p.A13A

c.39T>A

2 papers

NM_002161.6

p.E14K

c.40G>A

1 paper

NM_002161.6

p.K17E

c.49A>G