Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E59delFs

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
1 paper
NM_000310.4
p.E59delFs
c.175delC
Surrounding Variants
1 paper
NM_000310.4
p.E59del1
c.175_176delCTC
5 papers
NM_000310.4
p.K60M
c.179A>T
1 paper
NM_000310.4
p.M57Fs
c.170delinsTTFs
12 papers
NM_000310.4
p.M57insFs
c.169dupA
1 paper
NM_000310.4
p.M57delFs
c.169delT
7 papers
NM_000310.4
p.M57fs
c.169_170fs
1 paper
NM_000310.4
p.M57V
c.169A>G
1 paper
NM_000310.4
p.K56Q
c.166A>C
1 paper
NM_000310.4
p.K55T
c.164A>C
4 papers
NM_000310.4
p.K55*
c.163A>T
1 paper
NM_000310.4
p.I54V
c.160A>G
1 paper
NM_000310.4
p.S50N
c.149G>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."