Varaico: Literature-Extracted Genetic Variants

Gene:PTRHD1
Variant:p.R3Q

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
Selected Variant
1 paper
NM_001013663.2
p.R3Q
c.8G>A
Surrounding Variants
1 paper
NM_001013663.2
p.M1T
c.2T>C
1 paper
NM_001013663.2
p.Y28_L29insFs
c.84_85insGC
1 paper
NM_001013663.2
p.V30insFs
c.89_90ins8
1 paper
NM_001013663.2
p.W42*
c.125G>A
1 paper
NM_001013663.2
p.W42*
c.126G>A
1 paper
NM_001013663.2
p.Q50*
c.148C>T
1 paper
NM_001013663.2
p.C52S
c.154T>A
1 paper
NM_001013663.2
p.C52S
c.155G>C
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
1 paper
NM_001013663.2
p.H65Q
c.195C>G
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