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

1–12 of 142 variants

8 papers

NM_001167734.2

p.T367I

c.1100C>T

7 papers

NM_001167734.2

p.A379T

c.1135G>A

7 papers

NM_001167734.2

p.A626D

c.1877C>A

6 papers

NM_001167734.2

p.R201W

c.601C>T

6 papers

NM_020442.6

p.G420R

c.1258G>A

6 papers

NM_001167734.2

p.R497H

c.1490G>A

4 papers

NM_001167734.2

p.A420T

c.1258G>A

4 papers

NM_001167734.2

p.E516*

c.1546G>T

3 papers

NM_020442.6

p.T337I

c.1010C>T

3 papers

NM_001167734.2

p.D384N

c.1150G>A

3 papers

NM_020442.6

p.A390T

c.1168G>A

3 papers

NM_020442.6

p.E486*

c.1456G>T