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.H156N

c.466C>A

Surrounding Variants

1 paper

NM_020442.6

p.A157T

c.469G>A

1 paper

NM_020442.6

p.G150_L152del0

c.448_456del9

1 paper

NM_020442.6

p.R130W

c.388C>T

1 paper

NM_001167734.2

p.R201_M202insFs

c.603_606dup4

7 papers

NM_001167734.2

p.R201W

c.601C>T

NM_020442.6

p.R171W

c.511C>T

2 papers

NM_001167734.2

p.R203fs

c.607_608fs

NM_020442.6

p.R173fs

c.517_518fs

1 paper

NM_020442.6

p.D175G

c.524A>G

3 papers

NM_001167734.2

p.H215Y

c.643C>T

NM_020442.6

p.H185Y

c.553C>T

1 paper

NM_020442.6

p.L198P

c.593T>C

1 paper

NM_020442.6

p.Q128R

c.383A>G

2 papers

NM_020442.6

p.L215F

c.643C>T

1 paper

NM_020442.6

p.V96_S97del2

c.286_290del6