Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.A16delins

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.A16delins
c.46_47delinsAA
Surrounding Variants
1 paper
NM_001002913.3
p.A16Fs
c.46_47delinsAACFs
1 paper
NM_001002913.3
p.R15S
c.45A>T
1 paper
NM_001002913.3
p.R15S
c.45A>C
1 paper
NM_001002913.3
p.F6_A16delFs
c.18_48del31
1 paper
NM_001002913.3
p.M17K
c.50T>A
1 paper
NM_001002913.3
p.R15G
c.43A>G
1 paper
NM_001002913.3
p.S18C
c.52A>T
1 paper
NM_001002913.3
p.L13insFs
c.37_38insC
2 papers
NM_001002913.3
p.L13P
c.38T>C
1 paper
NM_001002913.3
p.R12W
c.34C>T
1 paper
NM_001002913.3
p.Q11_R12insFs
c.33_34insC
1 paper
NM_001002913.3
p.V21_L22insT
c.61_65ins3
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