Varaico: Literature-Extracted Genetic Variants

Gene:PTRH2
Variant:p.G39fs

PTRH2

43 papers

RefSeq Summary

The protein encoded by this gene is a mitochondrial protein with two putative domains, an N-terminal mitochondrial localization sequence, and a UPF0099 domain. In vitro assays suggest that this protei...

Pfam Domains

PTH2aa 65–179UCSCPeptidyl-tRNA hydrolase PTH2

Gene Aliases

HGNC Name

peptidyl-tRNA hydrolase 2

HGNC Alias Symbols

BIT1; CGI-147; CFAP37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001015509.3
p.G39fs
c.115_116fs
Surrounding Variants
2 papers
NM_001015509.3
p.F38insFs
c.114dupT
3 papers
NM_016077.5
p.G38insFs
c.114dupG
3 papers
NM_016077.5
p.S43fs
c.127_128fs
9 papers
NM_016077.5
p.S43insFs
c.127dupA
NM_001015509.3
p.K43insFs
c.127_128insA
1 paper
NM_016077.5
p.W31*
c.93G>A
5 papers
NM_016077.5
p.V23A
c.68T>C
1 paper
NM_016077.5
p.V21I
c.61G>A
1 paper
NM_016077.5
p.D51_S54del0
c.151_162del12
1 paper
NM_016077.5
p.G63E
c.188G>A
1 paper
NM_001015509.3
p.G81E
c.242G>A
1 paper
NM_001015509.3
p.Q86*
c.256C>T
2 papers
NM_016077.5
p.Q85R
c.254A>G
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