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

1 paper

NM_004446.3

p.T431S

c.1291A>T

Surrounding Variants

1 paper

NM_004446.3

p.N427ins1

c.1279_1280insTCC

1 paper

NM_004446.3

p.T439K

c.1316C>A

4 papers

NM_004446.3

p.Y419C

c.1256A>G

1 paper

NM_004446.3

p.I415V

c.1243A>G

1 paper

NM_004446.3

p.E388K

c.1162G>A

1 paper

NM_004446.3

p.P456L

c.1367C>T

1 paper

NM_004446.3

p.Q478_G479Splc

c.1434+2T>C

2 papers

NM_004446.3

p.M487V

c.1459A>G

1 paper

NM_004446.3

p.A494V

c.1481C>T

1 paper

NM_004446.3

p.T367I

c.1100C>T

1 paper

NM_004446.3

p.R366K

c.1097G>A

1 paper

NM_004446.3

p.L356P

c.1067T>C