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.P1160S

c.3478C>T

Surrounding Variants

1 paper

NM_004446.3

p.E1154K

c.3460G>A

1 paper

NM_004446.3

p.R1152L

c.3455G>T

1 paper

NM_004446.3

p.E1180G

c.3539A>G

1 paper

NM_004446.3

p.N1149S

c.3446A>G

2 papers

NM_004446.3

p.L1144V

c.3430C>G

2 papers

NM_004446.3

p.Q1135Q

c.3405G>A

1 paper

NM_004446.3

p.V1134I

c.3400G>A

4 papers

NM_004446.3

p.M1126T

c.3377T>C

1 paper

NM_004446.3

p.V1196insFs

c.3587dupT

1 paper

NM_004446.3

p.A1202fs

c.3604_3605fs

1 paper

NM_004446.3

p.A1202_V1205delFs

c.3604_3613del10

1 paper

NM_004446.3

p.T1211T

c.3633G>A