Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.E192K

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.E192K
c.574G>A
Surrounding Variants
1 paper
NM_000310.4
p.E192insFs
c.574dupG
1 paper
NM_000310.4
p.K191T
c.572A>C
2 papers
NM_000310.4
p.P189R
c.566C>G
2 papers
NM_000310.4
p.Y195H
c.583T>C
NM_001142604.2
p.Y92H
c.274T>C
1 paper
NM_000310.4
p.D188D
c.564C>T
1 paper
NM_000310.4
p.Y195C
c.584A>G
1 paper
NM_000310.4
p.D188G
c.563A>G
1 paper
NM_000310.4
p.R196L
c.587G>T
1 paper
NM_000310.4
p.H187R
c.560A>G
1 paper
NM_000310.4
p.H187Y
c.559C>T
3 papers
NM_000310.4
p.W186*
c.558G>A
3 papers
NM_000310.4
p.W186*
c.557G>A
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