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.R697_W699del3

c.2089_2096del9

Surrounding Variants

1 paper

NM_018060.4

p.R697S

c.2089C>A

1 paper

NM_018060.4

p.R697H

c.2090G>A

1 paper

NM_018060.4

p.E688G

c.2063A>G

1 paper

NM_018060.4

p.V705F

c.2113G>T

10 papers

NM_018060.4

p.E708K

c.2122G>A

1 paper

NM_018060.4

p.Q685K

c.2053C>A

1 paper

NM_018060.4

p.Q685fs

c.2053_2054fs

2 papers

NM_018060.4

p.Q685fs

c.2053_2054fs

2 papers

NM_018060.4

p.D684delFs

c.2052delT

1 paper

NM_018060.4

p.V709G

c.2126T>G

1 paper

NM_018060.4

p.V715M

c.2143G>A

1 paper

NM_018060.4

p.Q683_D684Splc

c.2049+209C>T