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

6 papers

NM_018060.4

p.G203R

c.607G>C

Surrounding Variants

6 papers

NM_018060.4

p.G203R

c.607G>A

1 paper

NM_018060.4

p.A198V

c.593C>T

1 paper

NM_018060.4

p.K196I

c.587A>T

1 paper

NM_018060.4

p.C211G

c.631T>G

1 paper

NM_018060.4

p.A191T

c.571G>A

1 paper

NM_018060.4

p.E220G

c.659A>G

1 paper

NM_018060.4

p.A184Splc

c.551-14C>A

4 papers

NM_018060.4

p.F227S

c.680T>C

1 paper

NM_018060.4

p.Y231insFs

c.693dupT

1 paper

NM_018060.4

p.K233del1

c.697_699delAAG

1 paper

NM_018060.4

p.P247S

c.739C>T

1 paper

NM_018060.4

p.P247P

c.741G>A