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

6 papers

NM_001167734.2

p.R497H

c.1490G>A

Surrounding Variants

7 papers

NM_001167734.2

p.E516*

c.1546G>T

NM_020442.6

p.E486*

c.1456G>T

1 paper

NM_020442.6

p.R490Q

c.1469G>A

1 paper

NM_001167734.2

p.K523_A524Splc

c.1569+4A>G

1 paper

NM_020442.6

p.G454G

c.1362C>T

2 papers

NM_020442.6

p.W449R

c.1345T>A

2 papers

NM_020442.6

p.W449R

c.1345T>C

1 paper

NM_020442.6

p.E448K

c.1342G>A

1 paper

NM_020442.6

p.E448_Q456del9

c.1342_1367del27

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.R435W

c.1303C>T