Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.Q207*

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.Q207*
c.619C>T
Surrounding Variants
1 paper
NM_000310.4
p.E208insFs
c.623_624insT
1 paper
NM_000310.4
p.E208insFs
c.623_624insTT
1 paper
NM_000310.4
p.I205K
c.614T>A
1 paper
NM_000310.4
p.R209L
c.626G>T
1 paper
NM_000310.4
p.I200delFs
c.598_599delAT
2 papers
NM_000310.4
p.S199G
c.595A>G
1 paper
NM_000310.4
p.H198P
c.593A>C
1 paper
NM_000310.4
p.R196L
c.587G>T
1 paper
NM_000310.4
p.Y195C
c.584A>G
2 papers
NM_000310.4
p.Y195H
c.583T>C
NM_001142604.2
p.Y92H
c.274T>C
1 paper
NM_000310.4
p.E192insFs
c.574dupG
1 paper
NM_000310.4
p.E192K
c.574G>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."