Varaico: Literature-Extracted Genetic Variants

VARS2

130 papers

RefSeq Summary

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosph...

Pfam Domains

tRNA-synt_1aa 112–735UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 779–932UCSCAnticodon-binding domain of tRNA ligase

Gene Aliases

HGNC Name

valyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbols

VARS2L; VARSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001167734.2

p.A420S

c.1258G>T

Surrounding Variants

7 papers

NM_020442.6

p.A390T

c.1168G>A

NM_001167734.2

p.A420T

c.1258G>A

1 paper

NM_020442.6

p.T394I

c.1181C>T

6 papers

NM_020442.6

p.G420R

c.1258G>A

1 paper

NM_020442.6

p.G420R

c.1258G>C

2 papers

NM_001167734.2

p.M452V

c.1354A>G

NM_020442.6

p.M422V

c.1264A>G

1 paper

NM_020442.6

p.C426Y

c.1277G>A

1 paper

NM_020442.6

p.R435W

c.1303C>T

2 papers

NM_020442.6

p.D379N

c.1135G>A

1 paper

NM_020442.6

p.M443I

c.1329G>A

1 paper

NM_020442.6

p.M443I

c.1329G>C

1 paper

NM_020442.6

p.M443I

c.1329G>T

1 paper

NM_020442.6

p.E448_Q456del9

c.1342_1367del27