Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.L56L

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
8 papers
NM_001002913.3
p.L56L
c.166C>T
Surrounding Variants
1 paper
NM_001002913.3
p.Q55delFs
c.163_164delTG
1 paper
NM_001002913.3
p.Q55P
c.164A>C
1 paper
NM_001002913.3
p.V52_L56del0
c.155_166del12
2 papers
NM_001002913.3
p.A57E
c.170C>A
2 papers
NM_001002913.3
p.A57delFs
c.171delC
1 paper
NM_001002913.3
p.R58Q
c.173G>A
1 paper
NM_001002913.3
p.L53L
c.159G>A
1 paper
NM_001002913.3
p.V52M
c.154G>A
1 paper
NM_001002913.3
p.L60P
c.179T>C
1 paper
NM_001002913.3
p.A51V
c.152C>T
1 paper
NM_001002913.3
p.A51T
c.151G>A
1 paper
NM_001002913.3
p.H46_V48del0
c.136_144del9
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