Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.A123A

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.A123A
c.369A>G
Surrounding Variants
1 paper
NM_000310.4
p.V124insFs
c.370_371insT
1 paper
NM_000310.4
p.A123T
c.367G>A
61 papers
NM_000310.4
p.R122W
c.364A>T
1 paper
NM_000310.4
p.L121Splc
c.363-1G>A
1 paper
NM_000310.4
p.Q126E
c.376C>G
4 papers
NM_000310.4
p.L121Splc
c.363-3T>G
4 papers
NM_000310.4
p.L121Splc
c.363-4G>A
1 paper
NM_000310.4
p.R127*
c.379A>T
1 paper
NM_000310.4
p.P132delFs
c.395_396delGG
1 paper
NM_000310.4
p.M133R
c.398T>G
1 paper
NM_000310.4
p.M133delFs
c.398delA
1 paper
NM_000310.4
p.M133delFs
c.397_398delAT
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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."