Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.L15M

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.L15M
c.43C>A
Surrounding Variants
1 paper
NM_000310.4
p.P16S
c.46C>T
1 paper
NM_000310.4
p.L14F
c.40C>T
1 paper
NM_000310.4
p.P16T
c.46C>A
1 paper
NM_000310.4
p.L7_P16delFs
c.20_47del28
1 paper
NM_000310.4
p.W17S
c.50G>C
1 paper
NM_000310.4
p.V12L
c.34G>T
1 paper
NM_000310.4
p.V12L
c.34G>C
1 paper
NM_000310.4
p.M1_A11del11
c.1_32del33
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.T18S
c.53C>G
1 paper
NM_000310.4
p.A11G
c.32C>G
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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."