Varaico: Literature-Extracted Genetic Variants

Gene:PTRHD1

PTRHD1

33 papers

RefSeq Summary

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessiv...

Pfam Domains

PTH2aa 25–139UCSCPeptidyl-tRNA hydrolase PTH2

Gene Aliases

HGNC Name

peptidyl-tRNA hydrolase domain containing 1

HGNC Previous Symbol

C2orf79

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
11 papers
NM_001013663.2
p.C52Y
c.155G>A
11 papers
NM_001013663.2
p.H53Y
c.157C>T
7 papers
NM_001013663.2
p.A57fs
c.169_170fs
7 papers
NM_001013663.2
p.A57_P66delFs
c.169_196del28
6 papers
NM_001013663.2
p.R122Q
c.365G>A
3 papers
NM_001013663.2
p.R122W
c.364C>T
2 papers
NM_001013663.2
p.E84D
c.252G>T
2 papers
NM_001013663.2
p.E84D
c.252G>C
1 paper
NM_001013663.2
p.M1T
c.2T>C
1 paper
NM_001013663.2
p.R3Q
c.8G>A
1 paper
NM_001013663.2
p.Y28_L29insFs
c.84_85insGC
1 paper
NM_001013663.2
p.V30insFs
c.89_90ins8
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."