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

1 paper

NM_005051.3

p.F627L

c.1881T>G

Surrounding Variants

1 paper

NM_005051.3

p.F627L

c.1881T>A

1 paper

NM_005051.3

p.F627L

c.1879T>C

1 paper

NM_005051.3

p.R629C

c.1885C>T

1 paper

NM_005051.3

p.E624Q

c.1870G>C

1 paper

NM_005051.3

p.A609T

c.1825G>A

1 paper

NM_005051.3

p.K601*

c.1801A>T

1 paper

NM_005051.3

p.D598N

c.1792G>A

1 paper

NM_005051.3

p.E688G

c.2063A>G

2 papers

NM_005051.3

p.R690C

c.2068C>T

1 paper

NM_005051.3

p.N581Y

c.1741A>T

1 paper

NM_005051.3

p.P708L

c.2123C>T

1 paper

NM_005051.3

p.R576P

c.1727G>C