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.K638Q

c.1912A>C

Surrounding Variants

1 paper

NM_006295.3

p.K638E

c.1912A>G

1 paper

NM_006295.3

p.L631L

c.1893G>C

1 paper

NM_006295.3

p.P661T

c.1981C>A

3 papers

NM_006295.3

p.P626S

c.1876C>T

1 paper

NM_006295.3

p.N623S

c.1868A>G

1 paper

NM_006295.3

p.I614_D616del3

c.1840_1847del9

2 papers

NM_006295.3

p.R665W

c.1993C>T

2 papers

NM_006295.3

p.A692P

c.2074G>C

1 paper

NM_006295.3

p.G696R

c.2086G>C

1 paper

NM_006295.3

p.R717W

c.2149C>T

1 paper

NM_006295.3

p.E718K

c.2152G>A

1 paper

NM_006295.3

p.R730C

c.2188C>T