Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.Q107K

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.Q107K
c.319C>A
Surrounding Variants
3 papers
NM_000310.4
p.Q106insFs
c.316dupC
9 papers
NM_000310.4
p.G108R
c.322G>C
1 paper
NM_000310.4
p.Q106*
c.316C>T
2 papers
NM_000310.4
p.Q106_Q107insG
c.316_320ins3
9 papers
NM_000310.4
p.Y109D
c.325T>G
5 papers
NM_000310.4
p.N110S
c.329A>G
1 paper
NM_000310.4
p.G113V
c.338G>T
1 paper
NM_000310.4
p.G113A
c.338G>C
3 papers
NM_000310.4
p.S115A
c.343T>G
1 paper
NM_000310.4
p.A98T
c.292G>A
1 paper
NM_000310.4
p.Q116fs
c.346_347fs
1 paper
NM_000310.4
p.Q116K
c.346C>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."