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.D308E

c.924C>A

Surrounding Variants

1 paper

NM_004446.3

p.R303H

c.908G>A

1 paper

NM_004446.3

p.A301T

c.901G>A

1 paper

NM_004446.3

p.E297Q

c.889G>C

1 paper

NM_004446.3

p.A296P

c.886G>C

1 paper

NM_004446.3

p.A280V

c.839C>T

1 paper

NM_004446.3

p.E254V

c.761A>T

1 paper

NM_004446.3

p.I233delFs

c.699delG

1 paper

NM_004446.3

p.H214Y

c.640C>T

2 papers

NM_004446.3

p.I212T

c.635T>C

1 paper

NM_004446.3

p.E317*

c.949G>T

1 paper

NM_004446.3

p.K328delFs

c.984delT

1 paper

NM_004446.3

p.S330R

c.990C>G