Varaico: Literature-Extracted Genetic Variants

VARS1

92 papers

RefSeq Summary

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-...

Pfam Domains

GST_Caa 107–198UCSCGlutathione S-transferase, C-terminal domain

tRNA-synt_1aa 308–939UCSCtRNA synthetases class I (I, L, M and V)

Anticodon_1aa 984–1139UCSCAnticodon-binding domain of tRNA ligase

Gene Aliases

HGNC Name

valyl-tRNA synthetase 1

HGNC Previous Names

valyl-tRNA synthetase 2; valyl-tRNA synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006295.3

p.A72insFs

c.214dupG

Surrounding Variants

1 paper

NM_006295.3

p.L67_W70del4

c.199_209del12

1 paper

NM_006295.3

p.A76G

c.227C>G

1 paper

NM_006295.3

p.L78fs

c.232_233fs

1 paper

NM_006295.3

p.L78fs

c.232_233fs

1 paper

NM_006295.3

p.P81P

c.243A>G

1 paper

NM_006295.3

p.G85R

c.253G>C

1 paper

NM_006295.3

p.G85R

c.253G>A

1 paper

NM_006295.3

p.A59G

c.176C>G

2 papers

NM_006295.3

p.P51R

c.152C>G

2 papers

NM_006295.3

p.P51delins

c.151_152delinsAG

2 papers

NM_006295.3

p.P51S

c.151C>T

2 papers

NM_006295.3

p.P51T

c.151C>A