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.V1154M

c.3460G>A

Surrounding Variants

1 paper

NM_006295.3

p.Y1153Y

c.3459C>T

1 paper

NM_006295.3

p.Q1155*

c.3463C>T

1 paper

NM_006295.3

p.S1151L

c.3452C>T

1 paper

NM_006295.3

p.T1143T

c.3429G>A

1 paper

NM_006295.3

p.R1208*

c.3622C>T

1 paper

NM_006295.3

p.R1217C

c.3649C>T

2 papers

NM_006295.3

p.R1217H

c.3650G>A

1 paper

NM_006295.3

p.R1122W

c.3364C>T

1 paper

NM_006295.3

p.P1232Q

c.3695C>A

2 papers

NM_006295.3

p.R1119C

c.3355C>T

1 paper

NM_006295.3

p.A1107T

c.3319G>A

1 paper

NM_006295.3

p.E1096D

c.3288G>T