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

1–12 of 124 variants

7 papers

NM_006295.3

p.L885F

c.2653C>T

7 papers

NM_006295.3

p.R1058Q

c.3173G>A

3 papers

NM_006295.3

p.P626S

c.1876C>T

3 papers

NM_006295.3

p.M1064I

c.3192G>T

3 papers

NM_006295.3

p.M1064I

c.3192G>C

3 papers

NM_006295.3

p.M1064I

c.3192G>A

3 papers

NM_006295.3

p.F1072L

c.3214T>C

3 papers

NM_006295.3

p.F1072L

c.3216C>G

3 papers

NM_006295.3

p.F1072L

c.3216C>A

3 papers

NM_006295.3

p.Q1081Q

c.3243A>G

2 papers

NM_006295.3

p.M1V

c.1A>G

2 papers

NM_006295.3

p.L16R

c.47T>G