Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.R22W

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.R22W
c.64C>T
Surrounding Variants
1 paper
NM_000310.4
p.A23T
c.67G>A
1 paper
NM_000310.4
p.L24V
c.70C>G
1 paper
NM_000310.4
p.T18S
c.53C>G
1 paper
NM_000310.4
p.T18S
c.52A>T
1 paper
NM_000310.4
p.T18A
c.52A>G
1 paper
NM_000310.4
p.W17S
c.50G>C
1 paper
NM_000310.4
p.L7_P16delFs
c.20_47del28
1 paper
NM_000310.4
p.P16S
c.46C>T
1 paper
NM_000310.4
p.P16T
c.46C>A
2 papers
NM_000310.4
p.D28G
c.83A>G
1 paper
NM_000310.4
p.L15M
c.43C>A
1 paper
NM_000310.4
p.P29fs
c.85_86fs
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."