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

7 papers

NM_006295.3

p.L885F

c.2653C>T

Surrounding Variants

1 paper

NM_006295.3

p.D875D

c.2625C>T

1 paper

NM_006295.3

p.D872N

c.2614G>A

1 paper

NM_006295.3

p.S866C

c.2597C>G

1 paper

NM_006295.3

p.S864R

c.2592C>A

1 paper

NM_006295.3

p.S864C

c.2590A>T

1 paper

NM_006295.3

p.R856Q

c.2567G>A

1 paper

NM_006295.3

p.V855A

c.2564T>C

1 paper

NM_006295.3

p.D920N

c.2758G>A

1 paper

NM_006295.3

p.R942Q

c.2825G>A

1 paper

NM_006295.3

p.R947H

c.2840G>A

1 paper

NM_006295.3

p.G822S

c.2464G>A

1 paper

NM_006295.3

p.L810R

c.2429T>G