Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.S3P

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.S3P
c.7T>C
Surrounding Variants
1 paper
NM_000310.4
p.A2delFs
c.6delC
1 paper
NM_000310.4
p.M1delFs
c.3delC
5 papers
NM_000310.4
p.M1I
c.3G>T
1 paper
NM_000310.4
p.M1insFs
c.2dupT
5 papers
NM_000310.4
p.M1I
c.3G>C
7 papers
NM_000310.4
p.M1I
c.3G>A
1 paper
NM_000310.4
p.M1R
c.2T>G
1 paper
NM_000310.4
p.M1T
c.2T>C
1 paper
NM_000310.4
p.M1_P4delFs
c.1_11del11
2 papers
NM_000310.4
p.M1L
c.1A>T
2 papers
NM_000310.4
p.M1L
c.1A>C
1 paper
NM_000310.4
p.C6G
c.16T>G
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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."