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.R134R

c.402G>A

Surrounding Variants

1 paper

NM_005051.3

p.H133H

c.399C>T

1 paper

NM_005051.3

p.V126E

c.377T>A

1 paper

NM_005051.3

p.G147R

c.439G>A

1 paper

NM_005051.3

p.L148P

c.443T>C

1 paper

NM_005051.3

p.E120K

c.358G>A

1 paper

NM_005051.3

p.G114D

c.341G>A

1 paper

NM_005051.3

p.E110*

c.328G>T

1 paper

NM_005051.3

p.E110Q

c.328G>C

2 papers

NM_005051.3

p.D106N

c.316G>A

1 paper

NM_005051.3

p.I102S

c.305T>G

1 paper

NM_005051.3

p.G151Splc

c.452-7C>T

1 paper

NM_005051.3

p.S96_H97del2

c.286_290del6