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

1–12 of 217 variants

13 papers

NM_018060.4

p.R817H

c.2450G>A

10 papers

NM_018060.4

p.E708K

c.2122G>A

10 papers

NM_018060.4

p.P909L

c.2726C>T

8 papers

NM_018060.4

p.P909S

c.2725C>T

7 papers

NM_018060.4

p.G874R

c.2620G>A

6 papers

NM_018060.4

p.G203R

c.607G>A

6 papers

NM_018060.4

p.G203R

c.607G>C

6 papers

NM_018060.4

p.H761R

c.2282A>G

6 papers

NM_018060.4

p.F859L

c.2575T>C

6 papers

NM_018060.4

p.F859L

c.2577C>A

6 papers

NM_018060.4

p.F859L

c.2577C>G

6 papers

NM_018060.4

p.G874R

c.2620G>C