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

2 papers

NM_006295.3

p.A22D

c.65C>A

Surrounding Variants

2 papers

NM_006295.3

p.R23C

c.67C>T

1 paper

NM_006295.3

p.R23_Y24delFs

c.67_70del4

1 paper

NM_006295.3

p.Y24fs

c.70_71fs

2 papers

NM_006295.3

p.L16R

c.47T>G

1 paper

NM_006295.3

p.P14L

c.41C>T

1 paper

NM_006295.3

p.Y24_G30delFs

c.71_90del20

1 paper

NM_006295.3

p.G32_W33delFs

c.96_97delAT

1 paper

NM_006295.3

p.P8insFs

c.23dupC

1 paper

NM_006295.3

p.P8L

c.23C>T

1 paper

NM_006295.3

p.T3A

c.7A>G

1 paper

NM_006295.3

p.M1I

c.3G>T

1 paper

NM_006295.3

p.M1T

c.2T>C