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.W432Splc

c.1296-19C>G

Surrounding Variants

1 paper

NM_005051.3

p.W432Splc

c.1296-19C>T

3 papers

NM_005051.3

p.Y435C

c.1304A>G

1 paper

NM_005051.3

p.C456R

c.1366T>C

1 paper

NM_005051.3

p.I448_C456del9

c.1342_1367del27

1 paper

NM_005051.3

p.D430fs

c.1288_1289fs

1 paper

NM_005051.3

p.T428_G429delFs

c.1284_1285delCT

3 papers

NM_005051.3

p.E459fs

c.1375_1376fs

1 paper

NM_005051.3

p.E459delFs

c.1375delC

1 paper

NM_005051.3

p.T428I

c.1283C>T

2 papers

NM_005051.3

p.Q461fs

c.1381_1382fs

1 paper

NM_005051.3

p.Q461delFs

c.1381delG

2 papers

NM_005051.3

p.R463*

c.1387C>T