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_020442.6

p.E863D

c.2589G>T

Surrounding Variants

1 paper

NM_020442.6

p.E863D

c.2589G>C

1 paper

NM_020442.6

p.E862K

c.2584G>A

1 paper

NM_020442.6

p.P875L

c.2624C>T

1 paper

NM_020442.6

p.P875P

c.2625C>T

1 paper

NM_020442.6

p.R851C

c.2551C>T

1 paper

NM_020442.6

p.P838S

c.2512C>T

1 paper

NM_020442.6

p.V825M

c.2473G>A

3 papers

NM_001167734.2

p.L852_E853Splc

c.2557-2A>G

1 paper

NM_020442.6

p.E892K

c.2674G>A

1 paper

NM_020442.6

p.R917Q

c.2750G>A

3 papers

NM_020442.6

p.Y920H

c.2758T>C

1 paper

NM_020442.6

p.L804R

c.2411T>G