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

2 papers

NM_020442.6

p.H26Y

c.76C>T

Surrounding Variants

1 paper

NM_020442.6

p.P23_R24delFs

c.67_70del4

1 paper

NM_020442.6

p.Q31H

c.93G>C

1 paper

NM_020442.6

p.S32_E33delFs

c.96_97delGG

1 paper

NM_020442.6

p.S19*

c.56C>G

1 paper

NM_020442.6

p.W14*

c.41G>A

1 paper

NM_020442.6

p.P38P

c.114C>T

1 paper

NM_020442.6

p.S40T

c.118T>A

1 paper

NM_020442.6

p.P11insFs

c.32_33insG

1 paper

NM_020442.6

p.A7G

c.20C>G

1 paper

NM_020442.6

p.A7P

c.19G>C

1 paper

NM_020442.6

p.P5P

c.15T>C

1 paper

NM_020442.6

p.M1I

c.3G>C