Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.H39Q

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
7 papers
NM_000310.4
p.H39Q
c.117T>A
Surrounding Variants
8 papers
NM_000310.4
p.H39Q
c.117T>G
2 papers
NM_000310.4
p.H39D
c.115C>G
1 paper
NM_000310.4
p.W38delFs
c.114delC
2 papers
NM_000310.4
p.W38C
c.114G>T
2 papers
NM_000310.4
p.W38C
c.114G>C
2 papers
NM_000310.4
p.W38*
c.114G>A
3 papers
NM_000310.4
p.W38*
c.113G>A
1 paper
NM_000310.4
p.H39_G40del0
c.115_120del6
4 papers
NM_000310.4
p.G42Splc
c.124+1G>A
1 paper
NM_000310.4
p.A31_V36delFs
c.92_108del17
2 papers
NM_000310.4
p.V36insFs
c.106_107insG
1 paper
NM_000310.4
p.A31_P32insGG
c.91_95ins6
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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."