Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.L10*

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
17 papers
NM_000310.4
p.L10*
c.29T>A
Surrounding Variants
1 paper
NM_000310.4
p.C6_L10delFs
c.18_30del13
1 paper
NM_000310.4
p.A11G
c.32C>G
1 paper
NM_000310.4
p.A11insFs
c.31_32insGG
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.W8*
c.24G>A
1 paper
NM_000310.4
p.M1_A11del11
c.1_32del33
1 paper
NM_000310.4
p.W8*
c.23G>A
1 paper
NM_000310.4
p.L7fs
c.19_20fs
1 paper
NM_000310.4
p.M1_C6del0
c.1_18del18
1 paper
NM_000310.4
p.L14F
c.40C>T
2 papers
NM_000310.4
p.C6S
c.17G>C
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