Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E78_D79Splc

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.E78_D79Splc
c.234+4A>C
Surrounding Variants
1 paper
NM_000310.4
p.E78_D79Splc
c.234+1G>A
1 paper
NM_000310.4
p.E78K
c.232G>A
1 paper
NM_000310.4
p.T75delFs
c.224delG
35 papers
NM_000310.4
p.T75P
c.223A>C
1 paper
NM_000310.4
p.G73A
c.218G>C
1 paper
NM_000310.4
p.G73E
c.218G>A
1 paper
NM_000310.4
p.G73W
c.217G>T
1 paper
NM_000310.4
p.E71G
c.212A>G
5 papers
NM_000310.4
p.K60M
c.179A>T
1 paper
NM_000310.4
p.E59del1
c.175_176delCTC
1 paper
NM_000310.4
p.E59delFs
c.175delC
1 paper
NM_000310.4
p.M57Fs
c.170delinsTTFs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."