Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.A106Splc

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
3 papers
NM_001002913.3
p.A106Splc
c.317-2A>G
Surrounding Variants
1 paper
NM_001002913.3
p.A106Splc
c.317-1G>A
1 paper
NM_001002913.3
p.A106A
c.318G>C
1 paper
NM_001002913.3
p.A106delFs
c.318delC
1 paper
NM_001002913.3
p.A106Splc
c.317-8G>A
2 papers
NM_001002913.3
p.L108L
c.324G>A
1 paper
NM_001002913.3
p.T112I
c.335C>T
1 paper
NM_001002913.3
p.A113delFs
c.339delG
1 paper
NM_001002913.3
p.E115*
c.343G>T
1 paper
NM_001002913.3
p.V116_Y117insFs
c.348_349insT
1 paper
NM_001002913.3
p.V116_Y117insFs
c.348_349insC
1 paper
NM_001002913.3
p.V116delFs
c.348delG
1 paper
NM_001002913.3
p.V119A
c.356T>C
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