Varaico: Literature-Extracted Genetic Variants

EPRS1

142 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the a...

Pfam Domains

Arc1p_N_likeaa 78–158UCSCNuclear-export cofactor Arc1p

tRNA-synt_1caa 197–502UCSCtRNA synthetases class I (E and Q), catalytic domain

tRNA-synt_1c_Caa 504–595UCSCtRNA synthetases class I (E and Q), anti-codon binding domain

tRNA-synt_1c_C2aa 606–681UCSCtRNA synthetases class I (E and Q), anti-codon binding domain

WHEP-TRSaa 753–805UCSCWHEP-TRS domain

WHEP-TRSaa 826–878UCSCWHEP-TRS domain

Gene Aliases

HGNC Name

glutamyl-prolyl-tRNA synthetase 1

HGNC Previous Symbol

QPRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_004446.3

p.P14R

c.41C>G

Surrounding Variants

1 paper

NM_004446.3

p.D12E

c.36C>G

1 paper

NM_004446.3

p.S5C

c.14C>G

1 paper

NM_004446.3

p.T3A

c.7A>G

1 paper

NM_004446.3

p.M1I

c.3G>T

1 paper

NM_004446.3

p.M1T

c.2T>C

1 paper

NM_004446.3

p.M1V

c.1A>G

1 paper

NM_004446.3

p.G16insFs

c.48dupA

1 paper

NM_004446.3

p.H23_V24delFs

c.67_70del4

1 paper

NM_004446.3

p.V32_E33delFs

c.96_97delCA

1 paper

NM_004446.3

p.G35A

c.104G>C