Varaico: Literature-Extracted Genetic Variants

QARS1

110 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

tRNA_synt_1c_R1aa 5–162UCSCGlutaminyl-tRNA synthetase, non-specific RNA binding region part 1

tRNA_synt_1c_R2aa 165–254UCSCGlutaminyl-tRNA synthetase, non-specific RNA binding region part 2

tRNA-synt_1caa 263–563UCSCtRNA synthetases class I (E and Q), catalytic domain

tRNA-synt_1c_Caa 565–666UCSCtRNA synthetases class I (E and Q), anti-codon binding domain

tRNA-synt_1c_C2aa 677–752UCSCtRNA synthetases class I (E and Q), anti-codon binding domain

Gene Aliases

HGNC Name

glutaminyl-tRNA synthetase 1

HGNC Previous Name

glutaminyl-tRNA synthetase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_005051.3

p.Y57H

c.169T>C

Surrounding Variants

1 paper

NM_005051.3

p.Y57D

c.169T>G

2 papers

NM_005051.3

p.Y57C

c.170A>G

1 paper

NM_005051.3

p.Y57ins1

c.170_171insAAA

2 papers

NM_005051.3

p.Y57*

c.171T>G

2 papers

NM_005051.3

p.Y57*

c.171T>A

1 paper

NM_005051.3

p.A60T

c.178G>A

2 papers

NM_005051.3

p.G53A

c.158G>C

1 paper

NM_005051.3

p.L63F

c.187C>T

1 paper

NM_005051.3

p.K50Q

c.148A>C

3 papers

NM_005051.3

p.R67W

c.199C>T

1 paper

NM_005051.3

p.S46Y

c.137C>A

8 papers

NM_005051.3

p.G45V

c.134G>T