Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.R145C

PTRH1

482 papers

Pfam Domains

Pept_tRNA_hydroaa 32–209UCSCPeptidyl-tRNA hydrolase

Gene Aliases

HGNC Name

peptidyl-tRNA hydrolase 1 homolog

HGNC Previous Symbol

C9orf115

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002913.3
p.R145C
c.433C>T
Surrounding Variants
1 paper
NM_001002913.3
p.V144A
c.431T>C
1 paper
NM_001002913.3
p.G143del1
c.427_429delTCC
2 papers
NM_001002913.3
p.G143E
c.428G>A
1 paper
NM_001002913.3
p.C147Y
c.440G>A
2 papers
NM_001002913.3
p.R145_I148Fs
c.433_442delinsAGAFs
1 paper
NM_001002913.3
p.C147_I148insFs
c.441_442insC
1 paper
NM_001002913.3
p.H141D
c.421C>G
1 paper
NM_001002913.3
p.S149ins1
c.446_447insAAC
1 paper
NM_001002913.3
p.S149ins1
c.446_447insGAA
1 paper
NM_001002913.3
p.C150S
c.448T>A
1 paper
NM_001002913.3
p.R139S
c.417G>T
1 paper
NM_001002913.3
p.C150S
c.449G>C
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