Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.D124E

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.D124E
c.372C>A
Surrounding Variants
1 paper
NM_001002913.3
p.D124H
c.370G>C
1 paper
NM_001002913.3
p.K125insFs
c.373_374insA
1 paper
NM_001002913.3
p.K125N
c.375G>C
1 paper
NM_001002913.3
p.L123L
c.369G>C
1 paper
NM_001002913.3
p.E122D
c.366G>T
1 paper
NM_001002913.3
p.D121delFs
c.363delA
1 paper
NM_001002913.3
p.D121A
c.362A>C
1 paper
NM_001002913.3
p.D121N
c.361G>A
1 paper
NM_001002913.3
p.H120Y
c.358C>T
1 paper
NM_001002913.3
p.V119delFs
c.356delA
1 paper
NM_001002913.3
p.V119A
c.356T>C
1 paper
NM_001002913.3
p.A131A
c.393T>C
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