Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.D83N

PTRH1

482 papers

Pfam Domains

Pept_tRNA_hydroaa 32–209UCSCPeptidyl-tRNA hydrolase

Gene Aliases

HGNC Name

peptidyl-tRNA hydrolase 1 homolog

HGNC Previous Symbol

C9orf115

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002913.3
p.D83N
c.247G>A
Surrounding Variants
1 paper
NM_001002913.3
p.D83insFs
c.247_248insC
1 paper
NM_001002913.3
p.D83_A84insA
c.247_251ins3
1 paper
NM_001002913.3
p.D83A
c.248A>C
1 paper
NM_001002913.3
p.G82insFs
c.244_245insG
1 paper
NM_001002913.3
p.G82delFs
c.246delC
2 papers
NM_001002913.3
p.G82R
c.244G>C
3 papers
NM_001002913.3
p.G82R
c.244G>A
1 paper
NM_001002913.3
p.A84T
c.250G>A
1 paper
NM_001002913.3
p.L81P
c.242T>C
2 papers
NM_001002913.3
p.Q85P
c.254A>C
1 paper
NM_001002913.3
p.A79V
c.236C>T
1 paper
NM_001002913.3
p.A79D
c.236C>A
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