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

1–12 of 150 variants

12 papers

NM_025150.5

p.P282L

c.845C>T

11 papers

NM_025150.5

p.G232Splc

c.695+3A>G

7 papers

NM_025150.5

p.T157R

c.470C>G

7 papers

NM_025150.5

p.S258L

c.773C>T

5 papers

NM_025150.5

p.F323C

c.968T>G

5 papers

NM_025150.5

p.E425G

c.1274A>G

5 papers

NM_025150.5

p.R452W

c.1354C>T

5 papers

NM_025150.5

p.E715K

c.2143G>A

4 papers

NM_025150.5

p.T157I

c.470C>T

4 papers

NM_025150.5

p.R429*

c.1285C>T

4 papers

NM_025150.5

p.D560H

c.1678G>C

4 papers

NM_025150.5

p.P613L

c.1838C>T