Varaico: Literature-Extracted Genetic Variants

IARS2

200 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 87–712UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 756–893UCSCAnticodon-binding domain of tRNA ligase

zf-FPG_IleRSaa 984–1008UCSCZinc finger found in FPG and IleRS

Gene Aliases

HGNC Name

isoleucyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbol

FLJ10326

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018060.4

p.K769_I770Splc

c.2307+14A>G

Surrounding Variants

1 paper

NM_018060.4

p.N768D

c.2302A>G

1 paper

NM_018060.4

p.A767E

c.2300C>A

1 paper

NM_018060.4

p.A767S

c.2299G>T

6 papers

NM_018060.4

p.H761R

c.2282A>G

1 paper

NM_018060.4

p.V754delFs

c.2260delG

1 paper

NM_018060.4

p.L734S

c.2201T>C

4 papers

NM_018060.4

p.R784W

c.2350C>T

1 paper

NM_018060.4

p.R787Q

c.2360G>A

1 paper

NM_018060.4

p.I801V

c.2401A>G

1 paper

NM_018060.4

p.V715M

c.2143G>A

1 paper

NM_018060.4

p.V709G

c.2126T>G

10 papers

NM_018060.4

p.E708K

c.2122G>A