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

8 papers

NM_018060.4

p.P909S

c.2725C>T

Surrounding Variants

10 papers

NM_018060.4

p.P909L

c.2726C>T

1 paper

NM_018060.4

p.F913delFs

c.2739delT

1 paper

NM_018060.4

p.T905N

c.2714C>A

1 paper

NM_018060.4

p.F913L

c.2737T>C

1 paper

NM_018060.4

p.F913fs

c.2737_2738fs

1 paper

NM_018060.4

p.F913L

c.2739T>A

1 paper

NM_018060.4

p.F913L

c.2739T>G

1 paper

NM_018060.4

p.D887Y

c.2659G>T

1 paper

NM_018060.4

p.R886*

c.2656C>T

1 paper

NM_018060.4

p.G874E

c.2621G>A

7 papers

NM_018060.4

p.G874R

c.2620G>A

6 papers

NM_018060.4

p.G874R

c.2620G>C