Varaico: Literature-Extracted Genetic Variants

Gene:PTRH2
Variant:p.W108*

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
6 papers
NM_016077.5
p.W108*
c.323G>A
Surrounding Variants
7 papers
NM_016077.5
p.W108*
c.324G>A
2 papers
NM_001015509.3
p.E110*
c.328G>T
4 papers
NM_016077.5
p.Y94N
c.280T>A
1 paper
NM_001015509.3
p.E124fs
c.370_371fs
1 paper
NM_001015509.3
p.E124delFs
c.370delC
1 paper
NM_016077.5
p.E124K
c.370G>A
1 paper
NM_016077.5
p.E124fs
c.370_371fs
1 paper
NM_016077.5
p.E124delFs
c.370delC
8 papers
NM_016077.5
p.A90delFs
c.269_270delAG
3 papers
NM_016077.5
p.A90fs
c.268_269fs
1 paper
NM_016077.5
p.A90G
c.269C>G
5 papers
NM_016077.5
p.A90fs
c.268_269fs
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