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.A59G

c.176C>G

Surrounding Variants

1 paper

NM_004446.3

p.L58S

c.173T>C

1 paper

NM_004446.3

p.Y57H

c.169T>C

1 paper

NM_004446.3

p.A65T

c.193G>A

1 paper

NM_004446.3

p.G69C

c.205G>T

2 papers

NM_004446.3

p.N71Y

c.211A>T

1 paper

NM_004446.3

p.L67_S70del4

c.199_209del12

1 paper

NM_004446.3

p.E77_I78Splc

c.231+5G>A

1 paper

NM_004446.3

p.T98T

c.294A>G

1 paper

NM_004446.3

p.T96_S97del2

c.286_290del6

1 paper

NM_004446.3

p.E101K

c.301G>A

1 paper

NM_004446.3

p.E101V

c.302A>T

1 paper

NM_004446.3

p.L108L

c.322C>T