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.Q673R

c.2018A>G

Surrounding Variants

1 paper

NM_025150.5

p.Q673H

c.2019G>C

1 paper

NM_025150.5

p.Q673H

c.2019G>T

1 paper

NM_025150.5

p.Q676R

c.2027A>G

3 papers

NM_025150.5

p.R684Q

c.2051G>A

1 paper

NM_025150.5

p.R689L

c.2066G>T

2 papers

NM_025150.5

p.T709M

c.2126C>T

1 paper

NM_025150.5

p.A714T

c.2140G>A

5 papers

NM_025150.5

p.E715K

c.2143G>A

1 paper

NM_025150.5

p.R659W

c.1975C>T

1 paper

NM_025150.5

p.D644G

c.1931A>G

1 paper

NM_025150.5

p.D644V

c.1931A>T

1 paper

NM_025150.5

p.V642_A647delFs

c.1926_1941del16