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

1–12 of 158 variants

8 papers

NM_005051.3

p.G45V

c.134G>T

8 papers

NM_005051.3

p.R403W

c.1207C>T

8 papers

NM_005051.3

p.R515W

c.1543C>T

7 papers

NM_005051.3

p.Y57H

c.169T>C

6 papers

NM_005051.3

p.G353V

c.1058G>T

6 papers

NM_005051.3

p.K496*

c.1486A>T

5 papers

NM_005051.3

p.Q742H

c.2226G>T

5 papers

NM_005051.3

p.Q742H

c.2226G>C

4 papers

NM_005051.3

p.R265C

c.793C>T

4 papers

NM_005051.3

p.R265H

c.794G>A

4 papers

NM_005051.3

p.R463*

c.1387C>T

4 papers

NM_005051.3

p.S495insFs

c.1485dupT