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

4 papers

NM_005051.3

p.R265C

c.793C>T

Surrounding Variants

4 papers

NM_005051.3

p.R265H

c.794G>A

1 paper

NM_005051.3

p.T266P

c.796A>C

1 paper

NM_005051.3

p.R267W

c.799C>T

2 papers

NM_005051.3

p.N285S

c.854A>G

1 paper

NM_005051.3

p.F286L

c.856T>C

1 paper

NM_005051.3

p.F286L

c.858C>G

1 paper

NM_005051.3

p.F286L

c.858C>A

1 paper

NM_005051.3

p.P234H

c.701C>A

1 paper

NM_005051.3

p.F231L

c.693C>G

1 paper

NM_005051.3

p.F231L

c.693C>A

1 paper

NM_005051.3

p.F231L

c.691T>C

1 paper

NM_005051.3

p.A228V

c.683C>T