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.R519H

c.1556G>A

Surrounding Variants

1 paper

NM_002161.6

p.R519L

c.1556G>T

6 papers

NM_002161.6

p.R519C

c.1555C>T

1 paper

NM_002161.6

p.H518L

c.1553A>T

1 paper

NM_002161.6

p.K514T

c.1541A>C

1 paper

NM_002161.6

p.E529*

c.1585G>T

1 paper

NM_002161.6

p.I508S

c.1523T>G

2 papers

NM_002161.6

p.Y535C

c.1604A>G

1 paper

NM_002161.6

p.S502R

c.1506T>A

1 paper

NM_002161.6

p.A551T

c.1651G>A

1 paper

NM_002161.6

p.A554E

c.1661C>A

1 paper

NM_002161.6

p.D555N

c.1663G>A

8 papers

NM_002161.6

p.F556S

c.1667T>C