Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1

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
1–12 of 230 variants
8 papers
NM_001002913.3
p.R25C
c.73C>T
8 papers
NM_001002913.3
p.L56L
c.166C>T
5 papers
NM_001002913.3
p.M1T
c.2T>C
5 papers
NM_001002913.3
p.M1I
c.3G>A
5 papers
NM_001002913.3
p.G43D
c.128G>A
5 papers
NM_001002913.3
p.L151F
c.451C>T
4 papers
NM_001002913.3
p.P39A
c.115C>G
4 papers
NM_001002913.3
p.G136D
c.407G>A
3 papers
NM_001002913.3
p.L7_G8insFs
c.21_22insT
3 papers
NM_001002913.3
p.A16delins
c.46_47delinsAA
3 papers
NM_001002913.3
p.S65_W66insFs
c.195_196insA
3 papers
NM_001002913.3
p.S65_W66insFs
c.195_196insT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."