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

4 papers

NM_002161.6

p.R722S

c.2164C>A

Surrounding Variants

1 paper

NM_002161.6

p.R722H

c.2165G>A

1 paper

NM_002161.6

p.K725R

c.2174A>G

8 papers

NM_002161.6

p.R739C

c.2215C>T

1 paper

NM_002161.6

p.C751F

c.2252G>T

1 paper

NM_002161.6

p.A754T

c.2260G>A

1 paper

NM_002161.6

p.A754delFs

c.2260delC

1 paper

NM_002161.6

p.E756Q

c.2266G>C

1 paper

NM_002161.6

p.Y781F

c.2342A>T

1 paper

NM_002161.6

p.K785fs

c.2353_2354fs

1 paper

NM_002161.6

p.K785R

c.2354A>G

1 paper

NM_002161.6

p.K785delFs

c.2354delT

1 paper

NM_002161.6

p.D797N

c.2389G>A