Varaico: Literature-Extracted Genetic Variants

TARS2

136 papers

RefSeq Summary

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript varia...

Pfam Domains

TGSaa 61–121UCSCTGS domain

tRNA_SADaa 228–277UCSCThreonyl and Alanyl tRNA synthetase second additional domain

tRNA-synt_2baa 393–603UCSCtRNA synthetase class II core domain (G, H, P, S and T)

HGTP_anticodonaa 615–706UCSCAnticodon binding domain

Gene Aliases

HGNC Name

threonyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

TARSL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_025150.5

p.G604E

c.1811G>A

Surrounding Variants

1 paper

NM_025150.5

p.L583F

c.1747C>T

1 paper

NM_025150.5

p.R580C

c.1738C>T

1 paper

NM_025150.5

p.E579E

c.1737G>A

1 paper

NM_025150.5

p.A575V

c.1724C>T

1 paper

NM_025150.5

p.W610L

c.1829G>T

4 papers

NM_025150.5

p.P613L

c.1838C>T

1 paper

NM_025150.5

p.V618G

c.1853T>G

1 paper

NM_025150.5

p.P620H

c.1859C>A

1 paper

NM_025150.5

p.L565R

c.1694T>G

2 papers

NM_025150.5

p.D560A

c.1679A>C

4 papers

NM_025150.5

p.D560H

c.1678G>C

1 paper

NM_025150.5

p.P551L

c.1652C>T