Varaico: Literature-Extracted Genetic Variants

Gene:PTRHD1
Variant:p.R137*

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.R137*
c.409C>T
Surrounding Variants
6 papers
NM_001013663.2
p.R122Q
c.365G>A
3 papers
NM_001013663.2
p.R122W
c.364C>T
1 paper
NM_001013663.2
p.K101E
c.301A>G
1 paper
NM_001013663.2
p.T89_T90ins8
c.265_269ins24
1 paper
NM_001013663.2
p.E84_A85Splc
c.252+2T>C
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.V81V
c.243G>T
1 paper
NM_001013663.2
p.Y71*
c.213C>G
1 paper
NM_001013663.2
p.Y71*
c.213C>A
7 papers
NM_001013663.2
p.A57_P66delFs
c.169_196del28
1 paper
NM_001013663.2
p.H65Q
c.195C>G
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