Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.S115_F120del6

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.S115_F120del6
c.343_359del18
Surrounding Variants
1 paper
NM_000310.4
p.L121insFs
c.362_363ins44
1 paper
NM_000310.4
p.L121Splc
c.362+1G>A
1 paper
NM_000310.4
p.L121Splc
c.362+5G>A
1 paper
NM_000310.4
p.Q119*
c.355C>T
4 papers
NM_000310.4
p.G118D
c.353G>A
1 paper
NM_000310.4
p.Q116H
c.348G>T
1 paper
NM_000310.4
p.Q116H
c.348G>C
1 paper
NM_000310.4
p.Q116delFs
c.346_347delTG
1 paper
NM_000310.4
p.Q116fs
c.346_347fs
1 paper
NM_000310.4
p.Q116K
c.346C>A
3 papers
NM_000310.4
p.S115A
c.343T>G
1 paper
NM_000310.4
p.G113V
c.338G>T
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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."