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.L804R

c.2411T>G

Surrounding Variants

1 paper

NM_020442.6

p.F764C

c.2291T>G

1 paper

NM_020442.6

p.R743Q

c.2228G>A

1 paper

NM_020442.6

p.L732fs

c.2194_2195fs

1 paper

NM_020442.6

p.D731delFs

c.2193delC

4 papers

NM_001167734.2

p.A747T

c.2239G>A

NM_020442.6

p.A717T

c.2149G>A

2 papers

NM_020442.6

p.V680L

c.2038G>C

2 papers

NM_020442.6

p.V680L

c.2038G>T

3 papers

NM_001167734.2

p.L852_E853Splc

c.2557-2A>G

1 paper

NM_020442.6

p.V825M

c.2473G>A

1 paper

NM_020442.6

p.P838S

c.2512C>T

1 paper

NM_020442.6

p.R657W

c.1969C>T

1 paper

NM_020442.6

p.R851C

c.2551C>T