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.R452delFs

c.1356delG

Surrounding Variants

5 papers

NM_025150.5

p.R452W

c.1354C>T

2 papers

NM_025150.5

p.E440K

c.1318G>A

1 paper

NM_025150.5

p.R438W

c.1312C>T

2 papers

NM_025150.5

p.F433C

c.1298T>G

1 paper

NM_025150.5

p.Q467_L468Splc

c.1401+16C>T

1 paper

NM_025150.5

p.Q467_L468Splc

c.1401+17T>A

4 papers

NM_025150.5

p.R429*

c.1285C>T

1 paper

NM_025150.5

p.L428M

c.1282C>A

5 papers

NM_025150.5

p.E425G

c.1274A>G

2 papers

NM_025150.5

p.R419W

c.1255C>T

1 paper

NM_025150.5

p.H418R

c.1253A>G

1 paper

NM_025150.5

p.A417A

c.1251C>T