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.G1310S

c.3928G>A

Surrounding Variants

1 paper

NM_004446.3

p.T1312A

c.3934A>G

1 paper

NM_004446.3

p.Q1303_V1304Splc

c.3910-15T>G

1 paper

NM_004446.3

p.A1322V

c.3965C>T

1 paper

NM_004446.3

p.K1326_N1328delFs

c.3977_3983del7

1 paper

NM_004446.3

p.P1351T

c.4051C>A

1 paper

NM_004446.3

p.R1298S

c.3892C>A

1 paper

NM_004446.3

p.T1279_I1280insTCC

c.3835_3839ins9

1 paper

NM_004446.3

p.P1262L

c.3785C>T

1 paper

NM_004446.3

p.E1253A

c.3758A>C

1 paper

NM_004446.3

p.E1226K

c.3676G>A

2 papers

NM_004446.3

p.T1223delFs

c.3667delT

3 papers

NM_004446.3

p.T1223fs

c.3667_3668fs