Varaico: Literature-Extracted Genetic Variants

Gene:PPT1
Variant:p.A252V

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.A252V
c.755C>T
Surrounding Variants
1 paper
NM_000310.4
p.K253del1
c.757_759delCTT
12 papers
NM_000310.4
p.G250V
c.749G>T
1 paper
NM_000310.4
p.I256insFs
c.767_768insCC
1 paper
NM_000310.4
p.R248K
c.743G>A
1 paper
NM_000310.4
p.I256_P257insFs
c.768_769dupTC
1 paper
NM_000310.4
p.Y247C
c.740A>G
9 papers
NM_000310.4
p.Y247H
c.739T>C
1 paper
NM_000310.4
p.T255_P257del3
c.763_770del9
8 papers
NM_000310.4
p.F246insFs
c.736_737insC
4 papers
NM_000310.4
p.F246fs
c.736_737fs
1 paper
NM_000310.4
p.Q259insFs
c.775_776insA
1 paper
NM_000310.4
p.Q259insFs
c.776_777insA
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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."