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

1–12 of 148 variants

5 papers

NM_004446.3

p.P14R

c.41C>G

5 papers

NM_004446.3

p.E205G

c.614A>G

5 papers

NM_004446.3

p.D308E

c.924C>A

5 papers

NM_004446.3

p.P1115R

c.3344C>G

5 papers

NM_004446.3

p.P1160S

c.3478C>T

4 papers

NM_004446.3

p.R339*

c.1015C>T

4 papers

NM_004446.3

p.Y419C

c.1256A>G

4 papers

NM_004446.3

p.M1126T

c.3377T>C

3 papers

NM_004446.3

p.T1223fs

c.3667_3668fs

2 papers

NM_004446.3

p.N71Y

c.211A>T

2 papers

NM_004446.3

p.I212T

c.635T>C

2 papers

NM_004446.3

p.R339Q

c.1016G>A