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

4 papers

NM_001167734.2

p.D384N

c.1150G>A

NM_020442.6

p.D354N

c.1060G>A

Surrounding Variants

1 paper

NM_020442.6

p.D353D

c.1059C>T

1 paper

NM_020442.6

p.D354E

c.1062C>A

1 paper

NM_020442.6

p.D354E

c.1062C>G

7 papers

NM_001167734.2

p.A379T

c.1135G>A

11 papers

NM_020442.6

p.T337I

c.1010C>T

NM_001167734.2

p.T367I

c.1100C>T

1 paper

NM_020442.6

p.L365L

c.1095T>C

2 papers

NM_020442.6

p.D379N

c.1135G>A

1 paper

NM_020442.6

p.D329Splc

c.985+12A>G

1 paper

NM_020442.6

p.F318Y

c.953T>A

1 paper

NM_020442.6

p.C308W

c.924C>G

7 papers

NM_020442.6

p.A390T

c.1168G>A

NM_001167734.2

p.A420T

c.1258G>A

1 paper

NM_001167734.2

p.A420S

c.1258G>T