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

6 papers

NM_005051.3

p.K496*

c.1486A>T

Surrounding Variants

4 papers

NM_005051.3

p.S495insFs

c.1485dupT

1 paper

NM_005051.3

p.A492V

c.1475C>T

1 paper

NM_005051.3

p.L502P

c.1505T>C

1 paper

NM_005051.3

p.A504V

c.1511C>T

1 paper

NM_005051.3

p.V508G

c.1523T>G

1 paper

NM_005051.3

p.Y477C

c.1430A>G

3 papers

NM_005051.3

p.V476I

c.1426G>A

4 papers

NM_005051.3

p.R463*

c.1387C>T

1 paper

NM_005051.3

p.D513G

c.1538A>G

8 papers

NM_005051.3

p.R515W

c.1543C>T

2 papers

NM_005051.3

p.R523*

c.1567C>T

2 papers

NM_005051.3

p.R524W

c.1570C>T