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

2 papers

NM_018060.4

p.R267H

c.800G>A

Surrounding Variants

1 paper

NM_018060.4

p.H264Y

c.790C>T

1 paper

NM_018060.4

p.E263*

c.787G>T

1 paper

NM_018060.4

p.P274S

c.820C>T

1 paper

NM_018060.4

p.K277Q

c.829A>C

1 paper

NM_018060.4

p.A252T

c.754G>A

1 paper

NM_018060.4

p.D287Splc

c.860-15A>G

1 paper

NM_018060.4

p.R250T

c.749G>C

1 paper

NM_018060.4

p.P247P

c.741G>A

1 paper

NM_018060.4

p.P247S

c.739C>T

1 paper

NM_018060.4

p.P291L

c.872C>T

4 papers

NM_018060.4

p.W297*

c.890G>A

4 papers

NM_018060.4

p.W297*

c.891G>A