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.L269L

c.805T>C

Surrounding Variants

1 paper

NM_020442.6

p.R272W

c.814C>T

1 paper

NM_020442.6

p.T258I

c.773C>T

1 paper

NM_020442.6

p.C281Y

c.842G>A

1 paper

NM_020442.6

p.L283F

c.849A>C

1 paper

NM_020442.6

p.L283F

c.849A>T

1 paper

NM_020442.6

p.I287S

c.860T>G

1 paper

NM_020442.6

p.C246R

c.736T>C

1 paper

NM_020442.6

p.G237D

c.710G>A

1 paper

NM_020442.6

p.K225E

c.673A>G

1 paper

NM_020442.6

p.K225*

c.673A>T

1 paper

NM_020442.6

p.C308W

c.924C>G

1 paper

NM_020442.6

p.F318Y

c.953T>A