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.N812S

c.2435A>G

Surrounding Variants

5 papers

NM_018060.4

p.R816*

c.2446C>T

1 paper

NM_018060.4

p.C808*

c.2424T>A

13 papers

NM_018060.4

p.R817H

c.2450G>A

1 paper

NM_018060.4

p.R832C

c.2494C>T

1 paper

NM_018060.4

p.S833Y

c.2498C>A

1 paper

NM_018060.4

p.F834I

c.2500T>A

1 paper

NM_018060.4

p.I837delFs

c.2511delT

1 paper

NM_018060.4

p.L838fs

c.2512_2513fs

1 paper

NM_018060.4

p.L838fs

c.2512_2513fs

1 paper

NM_018060.4

p.H840R

c.2519A>G

6 papers

NM_018060.4

p.F859L

c.2575T>C

6 papers

NM_018060.4

p.F859L

c.2577C>A