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.S134F

c.401C>T

Surrounding Variants

1 paper

NM_025150.5

p.S134Y

c.401C>A

1 paper

NM_025150.5

p.F131del1

c.391_392delTTC

1 paper

NM_025150.5

p.A129_V130Splc

c.388-1G>C

1 paper

NM_025150.5

p.L147Q

c.440T>A

1 paper

NM_025150.5

p.A149D

c.446C>A

1 paper

NM_025150.5

p.A149A

c.447T>A

2 papers

NM_025150.5

p.P155R

c.464C>G

2 papers

NM_025150.5

p.P155L

c.464C>T

7 papers

NM_025150.5

p.T157R

c.470C>G

4 papers

NM_025150.5

p.T157I

c.470C>T

1 paper

NM_025150.5

p.E158Q

c.472G>C

1 paper

NM_025150.5

p.Y159C

c.476A>G