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

5 papers

NM_025150.5

p.F323C

c.968T>G

Surrounding Variants

1 paper

NM_025150.5

p.C322Y

c.965G>A

2 papers

NM_025150.5

p.R327*

c.979C>T

3 papers

NM_025150.5

p.R327Q

c.980G>A

1 paper

NM_025150.5

p.R327L

c.980G>T

3 papers

NM_025150.5

p.R330insFs

c.988dupA

2 papers

NM_025150.5

p.R330fs

c.988_989fs

1 paper

NM_025150.5

p.Y332C

c.995A>G

1 paper

NM_025150.5

p.E310A

c.929A>C

1 paper

NM_025150.5

p.A337V

c.1010C>T

1 paper

NM_025150.5

p.K307_E308Splc

c.922-72G>A

1 paper

NM_025150.5

p.K307E

c.919A>G

1 paper

NM_025150.5

p.E298K

c.892G>A