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.V959Splc

c.2876-2A>C

Surrounding Variants

1 paper

NM_020442.6

p.Q932*

c.2794C>T

1 paper

NM_020442.6

p.A965T

c.2893G>A

3 papers

NM_020442.6

p.Y920H

c.2758T>C

1 paper

NM_020442.6

p.R917Q

c.2750G>A

1 paper

NM_020442.6

p.E892K

c.2674G>A

1 paper

NM_020442.6

p.I994V

c.2980A>G

1 paper

NM_020442.6

p.L1031R

c.3092T>G

1 paper

NM_020442.6

p.A1045A

c.3135C>T

1 paper

NM_020442.6

p.P875P

c.2625C>T

1 paper

NM_020442.6

p.P875L

c.2624C>T

1 paper

NM_020442.6

p.E863D

c.2589G>C

1 paper

NM_020442.6

p.E863D

c.2589G>T