Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.R151*

PPT1

413 papers

RefSeq Summary

The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl grou...

Pfam Domains

Palm_thioestaa 34–243UCSCPalmitoyl protein thioesterase

Gene Aliases

HGNC Name

palmitoyl-protein thioesterase 1

HGNC Alias Symbols

CLN1; INCL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
92 papers
NM_000310.4
p.R151*
c.451C>T
Surrounding Variants
4 papers
NM_000310.4
p.C152Y
c.455G>A
1 paper
NM_000310.4
p.C152*
c.456C>A
1 paper
NM_000310.4
p.C152delFs
c.455delC
1 paper
NM_000310.4
p.P153A
c.457C>G
1 paper
NM_000310.4
p.G154_E155del1
c.461_463delCTC
1 paper
NM_000310.4
p.S156_S157delins
c.468_469delinsCC
1 paper
NM_000310.4
p.G145R
c.433G>C
1 paper
NM_000310.4
p.G145Splc
c.434-2A>T
1 paper
NM_000310.4
p.S157delFs
c.471delA
1 paper
NM_000310.4
p.H158fs
c.472_473fs
1 paper
NM_000310.4
p.H158Q
c.474C>G
1 paper
NM_000310.4
p.H158Q
c.474C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."