Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.R30W

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.R30W
c.88C>T
Surrounding Variants
1 paper
NM_001002913.3
p.K29N
c.87G>T
1 paper
NM_001002913.3
p.K29fs
c.85_86fs
1 paper
NM_001002913.3
p.K29N
c.87G>C
1 paper
NM_001002913.3
p.K29R
c.86A>G
1 paper
NM_001002913.3
p.K29fs
c.85_86fs
1 paper
NM_001002913.3
p.W31_M32insFs
c.93_94insT
1 paper
NM_001002913.3
p.G28insFs
c.83_84insA
1 paper
NM_001002913.3
p.M32V
c.94A>G
1 paper
NM_001002913.3
p.M32insFs
c.94_95insT
1 paper
NM_001002913.3
p.M32insFs
c.94_95insTA
1 paper
NM_001002913.3
p.M32_V33Splc
c.96+1G>A
1 paper
NM_001002913.3
p.P27T
c.79C>A
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