Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.R12W

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.R12W
c.34C>T
Surrounding Variants
1 paper
NM_001002913.3
p.Q11_R12insFs
c.33_34insC
1 paper
NM_001002913.3
p.G4_Q11insFs
c.12_31dup20
1 paper
NM_001002913.3
p.L13insFs
c.37_38insC
2 papers
NM_001002913.3
p.L13P
c.38T>C
1 paper
NM_001002913.3
p.A9delFs
c.26delG
1 paper
NM_001002913.3
p.R15G
c.43A>G
1 paper
NM_001002913.3
p.R15S
c.45A>T
1 paper
NM_001002913.3
p.R15S
c.45A>C
1 paper
NM_001002913.3
p.G8insFs
c.22_23insT
1 paper
NM_001002913.3
p.G8S
c.22G>A
1 paper
NM_001002913.3
p.A16Fs
c.46_47delinsAACFs
3 papers
NM_001002913.3
p.L7_G8insFs
c.21_22insT
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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."